3-52012299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012299
    reference: chr 3
allele count: 1
allele frequency: 4.458314757021846e-5
allele num: 22430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.306A>G
  hgvsp: ENST00000463721.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3079A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+201A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4049T>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.306A>G
  hgvsp: ENST00000273596.3:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.291A>G
  hgvsp: ENST00000494478.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.161A>G
  hgvsp: ENSP00000390557.2:p.Glu54Gly
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.501A>G
  hgvsp: ENST00000497864.1:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.340A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.306A>G
  hgvsp: ENST00000463937.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.306A>G
  hgvsp: ENST00000486081.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu54Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

3-52012314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012314
    reference: chr 3
allele count: 1
allele frequency: 4.467476769120801e-5
allele num: 22384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.355T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+216T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.306T>C
  hgvsp: ENST00000494478.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.176T>C
  hgvsp: ENSP00000390557.2:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3094T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.321T>C
  hgvsp: ENST00000273596.3:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.321T>C
  hgvsp: ENST00000463721.1:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.516T>C
  hgvsp: ENST00000497864.1:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.321T>C
  hgvsp: ENST00000463937.1:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.321T>C
  hgvsp: ENST00000486081.1:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4064A>G
  variant of: http://identifiers.org/hgnc/28235
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27918
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu59Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

3-52012319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012319
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012319
    reference: chr 3
allele count: 1
allele frequency: 4.469873055605221e-5
allele num: 22372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.521C>T
  hgvsp: ENSP00000418242.1:p.Thr174Met
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3099C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.181C>T
  hgvsp: ENSP00000390557.2:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.326C>T
  hgvsp: ENSP00000420395.1:p.Thr109Met
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.326C>T
  hgvsp: ENSP00000420487.1:p.Thr109Met
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.360C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.311C>T
  hgvsp: ENSP00000420475.1:p.Thr104Met
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.326C>T
  hgvsp: ENSP00000417688.1:p.Thr109Met
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4069G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+221C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.326C>T
  hgvsp: ENSP00000273596.3:p.Thr109Met
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr109Met
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-52012320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012320
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012320
    reference: chr 3
allele count: 357
allele frequency: 1.594889206576126e-2
allele num: 22384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.327G>A
  hgvsp: ENST00000463721.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.327G>A
  hgvsp: ENST00000463937.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.312G>A
  hgvsp: ENST00000494478.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3100G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.182G>A
  hgvsp: ENSP00000390557.2:p.Arg61His
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4070C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.327G>A
  hgvsp: ENST00000273596.3:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.361G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.327G>A
  hgvsp: ENST00000486081.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.522G>A
  hgvsp: ENST00000497864.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+222G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27358
  bin: 2.5e0
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.5e0
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Arg61His
num of homozygotes: 2
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52012324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012324
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 22296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+226G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.331G>A
  hgvsp: ENSP00000417688.1:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.331G>A
  hgvsp: ENSP00000273596.3:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.365G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4074C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3104G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.186G>A
  hgvsp: ENST00000458031.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.331G>A
  hgvsp: ENSP00000420487.1:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.316G>A
  hgvsp: ENSP00000420475.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.526G>A
  hgvsp: ENSP00000418242.1:p.Glu176Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.331G>A
  hgvsp: ENSP00000420395.1:p.Glu111Lys
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27600
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu111Lys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

3-52012326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012326
    reference: chr 3
allele count: 2
allele frequency: 8.97827258035554e-5
allele num: 22276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.528G>T
  hgvsp: ENSP00000418242.1:p.Glu176Asp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.188G>T
  hgvsp: ENSP00000390557.2:p.Ser63Ile
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.333G>T
  hgvsp: ENSP00000417688.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4076C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+228G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.318G>T
  hgvsp: ENSP00000420475.1:p.Glu106Asp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.333G>T
  hgvsp: ENSP00000420395.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.333G>T
  hgvsp: ENSP00000273596.3:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.333G>T
  hgvsp: ENSP00000420487.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3106G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.367G>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27461
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu111Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-52012366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012366
    reference: chr 3
allele count: 1
allele frequency: 4.651595497255559e-5
allele num: 21498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.358C>T
  hgvsp: ENSP00000420475.1:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.407C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.373C>T
  hgvsp: ENSP00000273596.3:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.568C>T
  hgvsp: ENSP00000418242.1:p.Arg190Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+268C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.373C>T
  hgvsp: ENSP00000420487.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.373C>T
  hgvsp: ENSP00000420395.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4116G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3146C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.373C>T
  hgvsp: ENSP00000417688.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.228C>T
  hgvsp: ENST00000458031.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

3-52012371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012371
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012371
    reference: chr 3
allele count: 1
allele frequency: 4.674207721791156e-5
allele num: 21394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.573C>T
  hgvsp: ENST00000497864.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.378C>T
  hgvsp: ENST00000463721.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.378C>T
  hgvsp: ENST00000463937.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+273C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.412C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3151C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.378C>T
  hgvsp: ENST00000486081.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4121G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.233C>T
  hgvsp: ENSP00000390557.2:p.Pro78Leu
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.363C>T
  hgvsp: ENST00000494478.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.378C>T
  hgvsp: ENST00000273596.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro78Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52012372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012372
    reference: chr 3
allele count: 2
allele frequency: 9.3694368968425e-5
allele num: 21346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.364G>A
  hgvsp: ENSP00000420475.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+274G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.379G>A
  hgvsp: ENSP00000420487.1:p.Val127Met
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.379G>A
  hgvsp: ENSP00000273596.3:p.Val127Met
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4122C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.413G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.234G>A
  hgvsp: ENST00000458031.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.379G>A
  hgvsp: ENSP00000420395.1:p.Val127Met
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.574G>A
  hgvsp: ENSP00000418242.1:p.Val192Met
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3152G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.379G>A
  hgvsp: ENSP00000417688.1:p.Val127Met
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val127Met
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: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-52012399-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012399
    reference: chr 3
allele count: 6
allele frequency: 2.974125111529692e-4
allele num: 20174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+9C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+9C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+9C>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3179C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+9C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+301C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+9C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.440C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+9C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+9C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4149G>T
  variant of: http://identifiers.org/hgnc/28235
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

3-52012420-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012420
    reference: chr 3
allele count: 19
allele frequency: 9.923743862947875e-4
allele num: 19146
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+30A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3200A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+30A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+30A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+30A>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+322A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+30A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.461A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+30A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4170T>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+30A>G
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-52012440-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012440
    reference: chr 3
allele count: 19
allele frequency: 1.031375529258495e-3
allele num: 18422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+342G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+50G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+50G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3220G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+50G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4190C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+50G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+50G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.481G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+50G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+50G>T
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-52012440-GGCAACTGGACC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012429
    reference: chr 3
allele count: 3
allele frequency: 1.628487677776571e-4
allele num: 18422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GGCAACTGGACC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

3-52012456-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012456
    reference: chr 3
allele count: 446
allele frequency: 2.550903683367651e-2
allele num: 17484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+66G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+66G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+66G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3236G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+66G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4206C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+66G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+66G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.497G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+358G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+66G>T
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 2
num of homozygotes: 31
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-52012462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012462
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012462
    reference: chr 3
allele count: 1
allele frequency: 5.888587916617595e-5
allele num: 16982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3242G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.503G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+364G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+72G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+72G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+72G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+72G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4212C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+72G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+72G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+72G>A
  variant of: http://identifiers.org/hgnc/177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-52012726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012726
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012726
    reference: chr 3
allele count: 1
allele frequency: 6.127450980392157e-4
allele num: 1632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+336G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+336G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+336G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+336G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+336G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+336G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+336G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3506G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-298-4476C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.767G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+628G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

3-52012765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012765
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012765
    reference: chr 3
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3545G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+375G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+375G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+375G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+667G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+375G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+375G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.806G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+375G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+375G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4452C>T
  variant of: http://identifiers.org/hgnc/28235
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-52012796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012796
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.837T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+406T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4421A>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+406T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+406T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+698T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+406T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+406T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+406T>C
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+406T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3576T>C
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

3-52012800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012800
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012800
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+410G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+410G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+702G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.841G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+410G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4417C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3580G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+410G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+410G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+410G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+410G>T
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

3-52012893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012893
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012893
    reference: chr 3
allele count: 1
allele frequency: 1.626016260162602e-4
allele num: 6150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+503C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+503C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.934C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4324G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+503C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+503C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+503C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+795C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+503C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3673C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+503C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-52012900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012900
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012900
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.941G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+510G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+510G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3680G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+802G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+510G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+510G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+510G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+510G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4317C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+510G>T
  variant of: http://identifiers.org/hgnc/38856
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52012903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012903
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012903
    reference: chr 3
allele count: 3
allele frequency: 4.812319538017325e-4
allele num: 6234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3683C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.944C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+805C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+513C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+513C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+513C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+513C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+513C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+513C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+513C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4314G>A
  variant of: http://identifiers.org/hgnc/28235
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-52012915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012915
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012915
    reference: chr 3
allele count: 2
allele frequency: 2.962085308056872e-4
allele num: 6752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+817G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4302C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+525G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+525G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.956G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3695G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+525G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+525G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+525G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+525G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+525G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

3-52012920-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52012920
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52012920
    reference: chr 3
allele count: 1
allele frequency: 1.444251877527441e-4
allele num: 6924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+530T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+4297A>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.281+822T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.145+3700T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+530T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248487
  ensembl transcript: ENST00000474575
  gene symbol: ABHD14A
  hgvsc: ENST00000474575.1:n.961T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.592+530T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.382+530T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+530T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+530T>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.397+530T>G
  variant of: http://identifiers.org/hgnc/24538
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-52014227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014227
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014227
    reference: chr 3
allele count: 1
allele frequency: 6.636580833554553e-5
allele num: 15068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1837C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-182C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3836C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-625C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1837C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2990G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-182C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1837C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1837C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-182C>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28034
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS

3-52014229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014229
    reference: chr 3
allele count: 53
allele frequency: 3.512725344644751e-3
allele num: 15088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-180C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3834C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1839C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-623C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-180C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1839C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1839C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2988G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1839C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-180C>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28046
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 2
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-52014231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014231
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 15080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3832C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1841C>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-178C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2986G>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-178C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1841C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-621C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1841C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-178C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1841C>G
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28198
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-52014255-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014255
    reference: chr 3
allele count: 1
allele frequency: 6.451612903225807e-5
allele num: 15500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1865C>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1865C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-154C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1865C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2962G>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-154C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-597C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3808C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-154C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1865C>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52014256-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014256
    reference: chr 3
allele count: 2
allele frequency: 1.28633907898122e-4
allele num: 15548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3807A>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-596A>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1866A>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-153A>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2961T>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1866A>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-153A>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1866A>C
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1866A>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-153A>C
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32226
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-52014260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014260
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014260
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 15782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1870A>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1870A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1870A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1870A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2957T>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3803A>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-149A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-149A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-592A>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-149A>G
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-52014285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014285
    reference: chr 3
allele count: 147
allele frequency: 7.75234679886088e-3
allele num: 18962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-124C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-124C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-124C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3778C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1895C>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1895C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-567C>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2932G>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1895C>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1895C>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18908
  bin: 7.5e0
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26578
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-52014298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014298
    reference: chr 3
allele count: 1
allele frequency: 4.29000429000429e-5
allele num: 23310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-111G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3765G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1908G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-554G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2919C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-111G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1908G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1908G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1908G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-111G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-52014299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014299
    reference: chr 3
allele count: 1
allele frequency: 4.178505766337958e-5
allele num: 23932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1909G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1909G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3764G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1909G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-553G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-110G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2918C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-110G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1909G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-110G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19018
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

3-52014306-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014306
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014306
    reference: chr 3
allele count: 2
allele frequency: 7.315824127587973e-5
allele num: 27338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-103G>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1916G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-103G>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-546G>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-103G>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2911C>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3757G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1916G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1916G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1916G>C
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52014321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014321
    reference: chr 3
allele count: 5
allele frequency: 1.269486619611029e-4
allele num: 39386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2896C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-88G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-531G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1931G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-88G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1931G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1931G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-88G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1931G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3742G>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

3-52014321-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014321
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 39386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1931G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3742G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-88G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1931G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2896C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-531G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-88G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1931G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-88G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1931G>T
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52014322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014322
    reference: chr 3
allele count: 1
allele frequency: 2.491032283778398e-5
allele num: 40144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2895A>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1932T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-87T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-87T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1932T>C
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1932T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-87T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3741T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-530T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1932T>C
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-52014338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014338
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 55146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-514C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-71C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1948C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-71C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2879G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3725C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1948C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1948C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-71C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1948C>T
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26662
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-52014344-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014343
    reference: chr 3
allele count: 1
allele frequency: 1.596831885539091e-5
allele num: 62624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1956delG
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1956delG
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3717delG
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2872delC
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-63delG
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-63delG
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-506delG
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1956delG
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-63delG
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1956delG
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TG
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

3-52014346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014346
    reference: chr 3
allele count: 1
allele frequency: 1.548179341094872e-5
allele num: 64592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-63G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-63G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1956G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1956G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1956G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2871C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3717G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1956G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-63G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-506G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-52014351-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014351
    reference: chr 3
allele count: 1
allele frequency: 1.447178002894356e-5
allele num: 69100
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1961C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-58C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1961C>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1961C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3712C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1961C>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-501C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2866G>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-58C>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-58C>G
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52014356-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014356
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014356
    reference: chr 3
allele count: 2
allele frequency: 2.65950373660275e-5
allele num: 75202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1966A>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-53A>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1966A>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-496A>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1966A>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3707A>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2861T>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-53A>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1966A>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-53A>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-52014376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014376
    reference: chr 3
allele count: 8
allele frequency: 8.356313194618534e-5
allele num: 95736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1986T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2841A>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3687T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1986T>C
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1986T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-476T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-33T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-33T>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1986T>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-33T>C
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52014377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014377
    reference: chr 3
allele count: 1
allele frequency: 1.032673799000372e-5
allele num: 96836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1987G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2840C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1987G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-32G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-32G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-475G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1987G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-32G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1987G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3686G>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

3-52014380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014380
    reference: chr 3
allele count: 1
allele frequency: 9.961548423086885e-6
allele num: 100386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3683C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-472C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1990C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2837G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-29C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1990C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1990C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1990C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-29C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-29C>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-52014386-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014385
    reference: chr 3
allele count: 7
allele frequency: 6.610134280156377e-5
allele num: 105898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-22delT
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1997delT
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3676delT
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-22delT
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1997delT
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1997delT
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2830delA
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-465delT
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-22delT
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1997delT
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38725
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: CT
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-52014388-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014388
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014388
    reference: chr 3
allele count: 3
allele frequency: 2.775413536616956e-5
allele num: 108092
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-21G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3675G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2829C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+1998G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-21G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+1998G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-21G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+1998G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+1998G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-464G>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36305
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-52014390-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014390
    reference: chr 3
allele count: 1
allele frequency: 9.104317267248129e-6
allele num: 109838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-462T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.383-19T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2000T>G
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3673T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2827A>C
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.398-19T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.593-19T>G
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2000T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2000T>G
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2000T>G
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-52014416-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014416
    reference: chr 3
allele count: 2
allele frequency: 1.682114080976972e-5
allele num: 118898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2026G>C
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.390G>C
  hgvsp: ENST00000494478.1:c.390G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3647G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2026G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2801C>G
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-436G>C
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2026G>C
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.600G>C
  hgvsp: ENST00000497864.1:c.600G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.405G>C
  hgvsp: ENST00000273596.3:c.405G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2026G>C
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly135Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-52014421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014421
    reference: chr 3
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.410C>T
  hgvsp: ENSP00000273596.3:p.Ser137Leu
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2031C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.605C>T
  hgvsp: ENSP00000418242.1:p.Ser202Leu
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2031C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2031C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.395C>T
  hgvsp: ENSP00000420475.1:p.Ser132Leu
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2796G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2031C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3642C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-431C>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser137Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-52014449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014449
    reference: chr 3
allele count: 1
allele frequency: 8.502533755059007e-6
allele num: 117612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.633G>A
  hgvsp: ENST00000497864.1:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2768C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2059G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2059G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.423G>A
  hgvsp: ENST00000494478.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2059G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2059G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.438G>A
  hgvsp: ENST00000273596.3:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3614G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-403G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu146Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-52014456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014456
    reference: chr 3
allele count: 5
allele frequency: 4.221047832914043e-5
allele num: 118454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2066C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-396C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.445C>T
  hgvsp: ENSP00000273596.3:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2066C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2066C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.430C>T
  hgvsp: ENSP00000420475.1:p.Arg144Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.640C>T
  hgvsp: ENSP00000418242.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2761G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2066C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3607C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg149Trp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-52014457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014457
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014457
    reference: chr 3
allele count: 4
allele frequency: 3.364058400053825e-5
allele num: 118904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.641G>A
  hgvsp: ENSP00000418242.1:p.Arg214Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.431G>A
  hgvsp: ENSP00000420475.1:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2067G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-395G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.446G>A
  hgvsp: ENSP00000273596.3:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2760C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2067G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3606G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2067G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2067G>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg149Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-52014463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014463
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014463
    reference: chr 3
allele count: 4
allele frequency: 3.363945234971574e-5
allele num: 118908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2754G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.647C>T
  hgvsp: ENSP00000418242.1:p.Ala216Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2073C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.437C>T
  hgvsp: ENSP00000420475.1:p.Ala146Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2073C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2073C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.452C>T
  hgvsp: ENSP00000273596.3:p.Ala151Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3600C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-389C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2073C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala151Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-52014464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014464
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014464
    reference: chr 3
allele count: 6
allele frequency: 5.039560550320012e-5
allele num: 119058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2074G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2074G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3599G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2074G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.648G>A
  hgvsp: ENST00000497864.1:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.453G>A
  hgvsp: ENST00000273596.3:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2074G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-388G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.438G>A
  hgvsp: ENST00000494478.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2753C>T
  variant of: http://identifiers.org/hgnc/28235
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala151Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-52014471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014471
    reference: chr 3
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-381G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.655G>A
  hgvsp: ENSP00000418242.1:p.Glu219Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2746C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3592G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2081G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.460G>A
  hgvsp: ENSP00000273596.3:p.Glu154Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2081G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2081G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2081G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.445G>A
  hgvsp: ENSP00000420475.1:p.Glu149Lys
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu154Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-52014474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014474
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014474
    reference: chr 3
allele count: 24
allele frequency: 2.012106172135683e-4
allele num: 119278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2084C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2084C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3589C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.448C>T
  hgvsp: ENSP00000420475.1:p.Arg150Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.658C>T
  hgvsp: ENSP00000418242.1:p.Arg220Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2743G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.463C>T
  hgvsp: ENSP00000273596.3:p.Arg155Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2084C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-378C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2084C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg155Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-52014475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014475
    reference: chr 3
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-377G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.659G>A
  hgvsp: ENSP00000418242.1:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2085G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2085G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3588G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.464G>A
  hgvsp: ENSP00000273596.3:p.Arg155Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.449G>A
  hgvsp: ENSP00000420475.1:p.Arg150Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2085G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2085G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2742C>T
  variant of: http://identifiers.org/hgnc/28235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg155Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-52014478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014478
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014478
    reference: chr 3
allele count: 8
allele frequency: 6.7359345267164e-5
allele num: 118766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2088C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-374C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2088C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.467C>T
  hgvsp: ENSP00000273596.3:p.Ala156Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2088C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.662C>T
  hgvsp: ENSP00000418242.1:p.Ala221Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.452C>T
  hgvsp: ENSP00000420475.1:p.Ala151Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2088C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3585C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2739G>A
  variant of: http://identifiers.org/hgnc/28235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala156Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-52014479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014479
    reference: chr 3
allele count: 10
allele frequency: 8.347106058329577e-5
allele num: 119802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.453G>A
  hgvsp: ENST00000494478.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3584G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2089G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.468G>A
  hgvsp: ENST00000273596.3:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.663G>A
  hgvsp: ENST00000497864.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-373G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2089G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2089G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2738C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2089G>A
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala156Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-52014482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014482
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014482
    reference: chr 3
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.666G>T
  hgvsp: ENST00000497864.1:c.666G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.456G>T
  hgvsp: ENST00000494478.1:c.456G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2092G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-370G>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2092G>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2735C>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.471G>T
  hgvsp: ENST00000273596.3:c.471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3581G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2092G>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2092G>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52014483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014483
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014483
    reference: chr 3
allele count: 12
allele frequency: 1.000550302666467e-4
allele num: 119934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2093C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.472C>T
  hgvsp: ENSP00000273596.3:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2093C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.457C>T
  hgvsp: ENST00000494478.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2734G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.667C>T
  hgvsp: ENSP00000418242.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2093C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3580C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-369C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2093C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg158Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-52014484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014484
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014484
    reference: chr 3
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2094G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2094G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-368G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2094G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2733C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.668G>A
  hgvsp: ENSP00000418242.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.473G>A
  hgvsp: ENSP00000273596.3:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2094G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000420475
  ensembl transcript: ENST00000494478
  gene symbol: ABHD14A
  hgvsc: ENST00000494478.1:c.458G>A
  hgvsp: ENST00000494478.1:c.458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3579G>A
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg158Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

3-52014486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014486
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014486
    reference: chr 3
allele count: 2230
allele frequency: 1.854685784623574e-2
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3577G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2096G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2731C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2096G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.670G>A
  hgvsp: ENSP00000418242.1:p.Asp224Asn
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2096G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.475G>A
  hgvsp: ENSP00000273596.3:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2096G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-366G>A
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 1197
genotype depth: GenotypeDepth
  all individuals: 36094
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp159Asn
num of homozygotes: 28
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-52014488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014488
    reference: chr 3
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2098C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.477C>T
  hgvsp: ENST00000273596.3:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-364C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2098C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3575C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2729G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2098C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418242
  ensembl transcript: ENST00000497864
  gene symbol: ABHD14A
  hgvsc: ENST00000497864.1:c.672C>T
  hgvsp: ENST00000497864.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2098C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp159Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-52014492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014492
    reference: chr 3
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2102G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.481G>A
  hgvsp: ENSP00000273596.3:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2102G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-360G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3571G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2102G>A
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2102G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2725C>T
  variant of: http://identifiers.org/hgnc/28235
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu161Lys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-52014500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014500
    reference: chr 3
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2110G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-352G>A
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3563G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2110G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2110G>A
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.489G>A
  hgvsp: ENST00000273596.3:c.489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2717C>T
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2110G>A
  variant of: http://identifiers.org/hgnc/177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln163Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-52014505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014505
    reference: chr 3
allele count: 157
allele frequency: 1.300400887917039e-3
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2712G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3558C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2115C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.494C>T
  hgvsp: ENSP00000273596.3:p.Ala165Val
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2115C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-347C>T
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2115C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2115C>T
  variant of: http://identifiers.org/hgnc/38856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 15915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala165Val
num of homozygotes: 4
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-52014506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52014506
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52014506
    reference: chr 3
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114779
  ensembl protein: ENSP00000420065
  ensembl transcript: ENST00000483233
  gene symbol: ABHD14B
  hgvsc: ENST00000483233.1:c.-299+2711G>A
  variant of: http://identifiers.org/hgnc/28235
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000273596
  ensembl transcript: ENST00000273596
  gene symbol: ABHD14A
  hgvsc: ENST00000273596.3:c.495C>T
  hgvsp: ENST00000273596.3:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000417688
  ensembl transcript: ENST00000463721
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463721.1:c.397+2116C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420487
  ensembl transcript: ENST00000463937
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000463937.1:c.397+2116C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl transcript: ENST00000497128
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000497128.1:n.146-3557C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243989
  ensembl protein: ENSP00000390557
  ensembl transcript: ENST00000458031
  gene symbol: ACY1
  hgvsc: ENST00000458031.2:c.252+2116C>T
  variant of: http://identifiers.org/hgnc/177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114786
  ensembl protein: ENSP00000420395
  ensembl transcript: ENST00000486081
  gene symbol: ABHD14A-ACY1
  hgvsc: ENST00000486081.1:c.397+2116C>T
  variant of: http://identifiers.org/hgnc/38856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248487
  ensembl protein: ENSP00000418824
  ensembl transcript: ENST00000491470
  gene symbol: ABHD14A
  hgvsc: ENST00000491470.1:c.282-346C>T
  variant of: http://identifiers.org/hgnc/24538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala165Ala
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 419
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25313
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2732
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.279754287176862e-4
allele num: 7814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.08127e5

FS
type: SiteQuality
SIO_000300: 2.377e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

GenotypeDepth
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25582
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.533742331288344e-3
allele num: 652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.681e0

VQSLOD
type: SiteQuality
SIO_000300: -2.721e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 5.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.149999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.07452e5

GenotypeDepth
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25617
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.091941471937104e-4
allele num: 9158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.140000000000001e-2

FS
type: SiteQuality
SIO_000300: 3.854e0

VQSLOD
type: SiteQuality
SIO_000300: -3.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 4.06758e5

GenotypeDepth
all individuals: 53
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1560
bin: 2.25e1
variant carriers: 26

GenotypeQuality
all individuals: 7191
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 25101
bin: 7.5e0
variant carriers: 40

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 28

GenotypeQuality
all individuals: 1556
bin: 9.75e1
variant carriers: 352

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 26

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 243
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2353
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1071
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 8

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 7.75e1
variant carriers: 5

Latino
type: Population
allele count: 7
allele frequency: 1.690821256038647e-2
allele num: 414
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.304347826086956e-2
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 260
allele frequency: 2.833478639930253e-2
allele num: 9176
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 5.6657223796034e-3
allele num: 2824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 2.61437908496732e-2
allele num: 1224
num of homozygotes: 0

South Asian
type: Population
allele count: 39
allele frequency: 4.959308240081384e-3
allele num: 7864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

QD
type: SiteQuality
SIO_000300: 1.355e1

DP
type: SiteQuality
SIO_000300: 4.1914e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeDepth
all individuals: 96
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25597
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.571e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.9725e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

GenotypeDepth
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25478
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.091703056768559e-4
allele num: 9160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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DP
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FS
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SIO_000300: 1.101e0

MQRankSum
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SIO_000300: 3.58e-1

ReadPosRankSum
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SIO_000300: 5.78e-1

ClippingRankSum
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SIO_000300: -3.58e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.07e-2

QD
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SIO_000300: 1.234e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 7814
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Other
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Latino
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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VQSLOD
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MQ
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SIO_000300: 6.0e1

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

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

African
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allele frequency: 3.55366027007818e-4
allele num: 2814
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

MQRankSum
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SIO_000300: 8.22e-1

FS
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SIO_000300: 4.19e0

DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
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SIO_000300: -8.776e-1

BaseQRankSum
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SIO_000300: 8.210000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.233638597274961e-4
allele num: 8954
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
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SIO_000300: -6.42e-1

FS
type: SiteQuality
SIO_000300: 4.948e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.469999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

DP
type: SiteQuality
SIO_000300: 3.57641e5

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

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

South Asian
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allele frequency: 8.181074447777475e-4
allele num: 7334
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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QD
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DP
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 6.493506493506494e-3
allele num: 616
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele num: 6808
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 6458
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Latino
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African
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 390

GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 965
bin: 6.25e1
variant carriers: 2

Latino
type: Population
allele count: 10
allele frequency: 2.777777777777778e-2
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 415
allele frequency: 1.557807807807808e-1
allele num: 2664
num of homozygotes: 31

East Asian
type: Population
allele count: 4
allele frequency: 6.968641114982578e-3
allele num: 574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.882352941176471e-3
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.610284521012791e-4
allele num: 7662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 2.321724709784411e-3
allele num: 6030
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

QD
type: SiteQuality
SIO_000300: 1.633e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.38293e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 1286
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.737317581653926e-4
allele num: 5756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 9.43e0

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 2.35094e5

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.923076923076923e-2
allele num: 52
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 4.2317e4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.83e-2

FS
type: SiteQuality
SIO_000300: 5.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 5.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

VQSLOD
type: SiteQuality
SIO_000300: -9.056999999999999e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.953125e-3
allele num: 512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -4.667e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.28e-2

DP
type: SiteQuality
SIO_000300: 3.3573e4

GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1071
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 1
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 3.034e4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.119999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.101e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 3.0921e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 2.384358607534573e-4
allele num: 4194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 6.3907e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.12e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.090301003344482e-4
allele num: 4784
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
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allele frequency: 1.347708894878706e-3
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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DP
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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QD
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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FS
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DP
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.15474e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.489999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.837e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.25335e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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bin: 9.75e1
variant carriers: 173

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.434782608695652e-3
allele num: 368
num of homozygotes: 0

African
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allele count: 144
allele frequency: 1.002785515320334e-1
allele num: 1436
num of homozygotes: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 4.29555e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.093135111499781e-4
allele num: 9148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 5.04255e5

QD
type: SiteQuality
SIO_000300: 9.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.593e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.464e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.391e0

DP
type: SiteQuality
SIO_000300: 5.11001e5

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 1.019e1

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.98e-2

FS
type: SiteQuality
SIO_000300: 2.447e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 242
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.578754578754579e-4
allele num: 2184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.49517e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.426e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18974
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2726
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 1.76056338028169e-3
allele num: 2840
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 6.67718e5

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.018e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18974
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 338
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MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.747e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 6.75729e5

QD
type: SiteQuality
SIO_000300: 7.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.962e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 8.13738e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.559e-1

QD
type: SiteQuality
SIO_000300: 7.57e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.91341335508682e-5
allele num: 34324
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11870
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 8.82442e5

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.17e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.313934153641503e-5
allele num: 12028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
type: SiteQuality
SIO_000300: -6.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 8.99541e5

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.592285358772293e-5
allele num: 38576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.41172e5

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.529051987767584e-4
allele num: 6540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358601820840606e-5
allele num: 42398
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 9.9542e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

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

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

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

African
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allele frequency: 1.202212070209185e-4
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.307873397855088e-4
allele num: 53522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.85000185000185e-5
allele num: 54054
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.196174e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.849e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.794108148839212e-5
allele num: 55738
num of homozygotes: 0

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

African
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Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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QD
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 7

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 258
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.200562549308819e-4
allele num: 58306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.283972e6

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686681959249764e-5
allele num: 59288
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.283038234539389e-4
allele num: 15588
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.496e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

FS
type: SiteQuality
SIO_000300: 3.273e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 1.305988e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662344570782632e-5
allele num: 60156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.321445e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.399e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 16
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variant carriers: 0

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

GenotypeQuality
all individuals: 1917
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.995211492418196e-4
allele num: 10024
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.413134e6

FS
type: SiteQuality
SIO_000300: 2.653e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533272002453235e-5
allele num: 65220
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.417802e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

VQSLOD
type: SiteQuality
SIO_000300: -2.965e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64174
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.588838e6

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.5e-2

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.186587478346944e-5
allele num: 64656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1771e1

MQ
type: SiteQuality
SIO_000300: 5.819e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
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SIO_000300: -2.19e0

DP
type: SiteQuality
SIO_000300: 1.465019e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 730
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GenotypeQuality
all individuals: 1466
bin: 7.25e1
variant carriers: 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: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080714725816389e-5
allele num: 64920
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 3.338e1

DP
type: SiteQuality
SIO_000300: 1.440214e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.922e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -1.686e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.145e0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45551
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GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.156498183833036e-5
allele num: 64972
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 2.0151e1

DP
type: SiteQuality
SIO_000300: 1.435322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.230485215839512e-5
allele num: 65002
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.0905e1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 1.439519e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65220
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.864e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.455504e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 778
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.513387660069849e-3
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65212
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.977848101265823e-4
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.854368932038835e-4
allele num: 16480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 4.987e0

DP
type: SiteQuality
SIO_000300: 1.463521e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.838e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
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DP
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SIO_000300: 1.468148e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.660721946436233e-5
allele num: 65268
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.706e0

FS
type: SiteQuality
SIO_000300: 3.295e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.474788e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.722e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

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

African
type: Population
allele count: 5
allele frequency: 4.904845987835982e-4
allele num: 10194
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.335761359694763e-4
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.192e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.67e-1

ClippingRankSum
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SIO_000300: -1.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.286e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.478655e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 2.745e0

QD
type: SiteQuality
SIO_000300: 1.627e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.373e0

GenotypeQuality
all individuals: 6194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 9.75e1
variant carriers: 12

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.079903147699758e-4
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575123528335265e-5
allele num: 65572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.480559e6

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 1

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

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

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
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: 10256
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

FS
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.688e0

VQSLOD
type: SiteQuality
SIO_000300: -2.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 1.481776e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.955e1

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2633
bin: 9.75e1
variant carriers: 2197

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
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GenotypeQuality
all individuals: 1558
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
bin: 2.25e1
variant carriers: 1

South Asian
type: Population
allele count: 11
allele frequency: 6.665858683795904e-4
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 2.022471910112359e-2
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1803
allele frequency: 2.740538075695394e-2
allele num: 65790
num of homozygotes: 22

African
type: Population
allele count: 36
allele frequency: 3.49990278047832e-3
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 72
allele frequency: 6.234845860755109e-3
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 290
allele frequency: 4.384638645297853e-2
allele num: 6614
num of homozygotes: 6

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.344e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.648438e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47411
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 6325
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 905
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GenotypeQuality
all individuals: 321
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.409e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.724e0

FS
type: SiteQuality
SIO_000300: 9.978999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 1.507064e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1739
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 1759
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 910
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GenotypeQuality
all individuals: 6353
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

QD
type: SiteQuality
SIO_000300: 1.56e1

DP
type: SiteQuality
SIO_000300: 1.509197e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47693
bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 325
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.494561e6

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

QD
type: SiteQuality
SIO_000300: 1.613e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.262e0

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1742
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GenotypeQuality
all individuals: 47620
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
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: 10336
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: 155
allele frequency: 9.389386963896292e-3
allele num: 16508
num of homozygotes: 4

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.755e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.504598e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.23e-2