http://identifiers.org/exac.variant/11-47204081-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204081
    reference: chr 11
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-577G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.84G>T
  hgvsp: ENST00000298838.6:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.84G>T
  hgvsp: ENST00000528462.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.84G>T
  hgvsp: ENST00000531226.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.84G>T
  hgvsp: ENST00000525725.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.84G>T
  hgvsp: ENST00000532457.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.84G>T
  hgvsp: ENST00000539589.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.84G>T
  hgvsp: ENST00000530405.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.84G>T
  hgvsp: ENST00000524509.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-577G>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg28Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

11-47204083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204083
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204083
    reference: chr 11
allele count: 52
allele frequency: 4.319582661859747e-4
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.82C>T
  hgvsp: ENSP00000431948.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.82C>T
  hgvsp: ENSP00000434699.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.82C>T
  hgvsp: ENSP00000435672.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.82C>T
  hgvsp: ENSP00000435638.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.82C>T
  hgvsp: ENSP00000298838.6:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.82C>T
  hgvsp: ENSP00000431861.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.82C>T
  hgvsp: ENSP00000440945.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.82C>T
  hgvsp: ENSP00000437252.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-579C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-579C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg28Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

11-47204090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204090
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204090
    reference: chr 11
allele count: 4
allele frequency: 3.320935175345377e-5
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.75G>A
  hgvsp: ENST00000530405.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.75G>A
  hgvsp: ENST00000298838.6:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.75G>A
  hgvsp: ENST00000539589.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.75G>A
  hgvsp: ENST00000524509.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.75G>A
  hgvsp: ENST00000532457.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.75G>A
  hgvsp: ENST00000525725.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.75G>A
  hgvsp: ENST00000531226.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.75G>A
  hgvsp: ENST00000528462.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-586G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-586G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr25Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

11-47204091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204091
    reference: chr 11
allele count: 7
allele frequency: 5.811347070250884e-5
allele num: 120454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-587C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.74C>T
  hgvsp: ENSP00000298838.6:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.74C>T
  hgvsp: ENSP00000434699.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.74C>T
  hgvsp: ENSP00000431861.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.74C>T
  hgvsp: ENSP00000437252.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-587C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.74C>T
  hgvsp: ENSP00000435638.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.74C>T
  hgvsp: ENSP00000431948.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.74C>T
  hgvsp: ENSP00000440945.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.74C>T
  hgvsp: ENSP00000435672.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr25Met
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: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-47204094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204094
    reference: chr 11
allele count: 3
allele frequency: 2.490908185124296e-5
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.71G>A
  hgvsp: ENSP00000431861.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-590G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.71G>A
  hgvsp: ENSP00000437252.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.71G>A
  hgvsp: ENSP00000431948.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.71G>A
  hgvsp: ENSP00000298838.6:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.71G>A
  hgvsp: ENSP00000435638.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.71G>A
  hgvsp: ENSP00000435672.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.71G>A
  hgvsp: ENSP00000434699.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-590G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.71G>A
  hgvsp: ENSP00000440945.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg24His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-47204095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204095
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204095
    reference: chr 11
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.70C>T
  hgvsp: ENSP00000298838.6:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.70C>T
  hgvsp: ENSP00000435638.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-591C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.70C>T
  hgvsp: ENSP00000431861.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.70C>T
  hgvsp: ENSP00000434699.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.70C>T
  hgvsp: ENSP00000440945.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.70C>T
  hgvsp: ENSP00000431948.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-591C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.70C>T
  hgvsp: ENSP00000437252.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.70C>T
  hgvsp: ENSP00000435672.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg24Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47204099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204099
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204099
    reference: chr 11
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.66C>T
  hgvsp: ENST00000531226.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.66C>T
  hgvsp: ENST00000298838.6:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-595C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.66C>T
  hgvsp: ENST00000539589.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.66C>T
  hgvsp: ENST00000532457.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.66C>T
  hgvsp: ENST00000528462.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.66C>T
  hgvsp: ENST00000530405.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.66C>T
  hgvsp: ENST00000524509.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.66C>T
  hgvsp: ENST00000525725.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-595C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr22Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

11-47204102-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204102
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204102
    reference: chr 11
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.63C>A
  hgvsp: ENSP00000431948.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.63C>A
  hgvsp: ENSP00000437252.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.63C>A
  hgvsp: ENSP00000435638.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-598C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.63C>A
  hgvsp: ENSP00000431861.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.63C>A
  hgvsp: ENSP00000298838.6:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.63C>A
  hgvsp: ENSP00000440945.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.63C>A
  hgvsp: ENSP00000434699.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.63C>A
  hgvsp: ENSP00000435672.1:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-598C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn21Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-47204104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204104
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204104
    reference: chr 11
allele count: 2
allele frequency: 1.660798511924533e-5
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.61A>G
  hgvsp: ENSP00000440945.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.61A>G
  hgvsp: ENSP00000431861.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.61A>G
  hgvsp: ENSP00000437252.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.61A>G
  hgvsp: ENSP00000298838.6:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-600A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.61A>G
  hgvsp: ENSP00000431948.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.61A>G
  hgvsp: ENSP00000435638.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.61A>G
  hgvsp: ENSP00000435672.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.61A>G
  hgvsp: ENSP00000434699.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-600A>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn21Asp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-47204118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204118
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204118
    reference: chr 11
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-8A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-8A>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 6.25e1
  variant carriers: 0
hgvs: c.55-8A>G
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

11-47204122-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204122
    reference: chr 11
allele count: 8
allele frequency: 6.643083719462574e-5
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-12C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-12C>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/11-47204127-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204127
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204127
    reference: chr 11
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-17T>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

11-47204128-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204128
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204128
    reference: chr 11
allele count: 8
allele frequency: 6.643525054393862e-5
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-18C>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-47204130-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204130
    reference: chr 11
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-20C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-20C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

11-47204139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204139
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204139
    reference: chr 11
allele count: 34
allele frequency: 2.825750901746979e-4
allele num: 120322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-29G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-47204146-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204146
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204146
    reference: chr 11
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-36C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-36C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-47204146-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204146
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204145
    reference: chr 11
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-37delT
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: GA
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-47204162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204162
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204162
    reference: chr 11
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.55-52G>C
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/11-47204175-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204175
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204175
    reference: chr 11
allele count: 2
allele frequency: 1.66347833319471e-5
allele num: 120230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-65T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-65T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+50T>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

11-47204175-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204175
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204175
    reference: chr 11
allele count: 84694
allele frequency: 7.044331697579639e-1
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-65T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-65T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+50T>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 1328
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 752
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 7.75e1
  variant carriers: 2812
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 2472
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 1409
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 8.25e1
  variant carriers: 3098
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 633
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 1698
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 637
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.25e1
  variant carriers: 1846
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 1117
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 6.75e1
  variant carriers: 2155
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 9.25e1
  variant carriers: 3331
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 935
genotype depth: GenotypeDepth
  all individuals: 24247
  bin: 9.75e1
  variant carriers: 24092
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 8.75e1
  variant carriers: 3231
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 5.75e1
  variant carriers: 1463
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.75e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 11
num of homozygotes: 30848
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-47204177-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204177
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204177
    reference: chr 11
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-67C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-67C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+48C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-47204177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204177
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204177
    reference: chr 11
allele count: 3
allele frequency: 2.506558828935715e-5
allele num: 119686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-67C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-67C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+48C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35992
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/11-47204180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204180
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204180
    reference: chr 11
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-70G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-70G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+45G>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

11-47204189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204189
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204189
    reference: chr 11
allele count: 4
allele frequency: 3.347280334728033e-5
allele num: 119500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-79A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-79A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+36A>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

11-47204201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204201
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204201
    reference: chr 11
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-91A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-91A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+24A>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-47204210-G-GACCCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204210
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204217
    reference: chr 11
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: GACCCAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+8_54+14dupGCTGGGT
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

11-47204210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204210
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204210
    reference: chr 11
allele count: 15
allele frequency: 1.254138657569981e-4
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-100C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-100C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+15C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/11-47204213-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204213
    reference: chr 11
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-103G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+12G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-103G>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-47204222-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204222
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204222
    reference: chr 11
allele count: 1
allele frequency: 8.353381448810478e-6
allele num: 119712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-112G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.54+3G>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-112G>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 9.25e1
  variant carriers: 0
hgvs: c.54+3G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-47204237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204237
    reference: chr 11
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.42C>T
  hgvsp: ENST00000532457.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.42C>T
  hgvsp: ENST00000524509.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.42C>T
  hgvsp: ENST00000298838.6:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.42C>T
  hgvsp: ENST00000528462.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-127C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-127C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.42C>T
  hgvsp: ENST00000531226.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.42C>T
  hgvsp: ENST00000530405.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.42C>T
  hgvsp: ENST00000539589.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.42C>T
  hgvsp: ENST00000525725.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-47204239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204239
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204239
    reference: chr 11
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-129G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.40G>A
  hgvsp: ENSP00000435638.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-129G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.40G>A
  hgvsp: ENSP00000431861.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.40G>A
  hgvsp: ENSP00000431948.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.40G>A
  hgvsp: ENSP00000437252.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.40G>A
  hgvsp: ENSP00000434699.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.40G>A
  hgvsp: ENSP00000440945.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.40G>A
  hgvsp: ENSP00000298838.6:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.40G>A
  hgvsp: ENSP00000435672.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly14Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

11-47204254-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204254
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204254
    reference: chr 11
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.25G>C
  hgvsp: ENSP00000298838.6:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-144G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.25G>C
  hgvsp: ENSP00000434699.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.25G>C
  hgvsp: ENSP00000435638.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-144G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.25G>C
  hgvsp: ENSP00000440945.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.25G>C
  hgvsp: ENSP00000431948.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.25G>C
  hgvsp: ENSP00000435672.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.25G>C
  hgvsp: ENSP00000431861.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.25G>C
  hgvsp: ENSP00000437252.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly9Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-47204260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204260
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204260
    reference: chr 11
allele count: 101
allele frequency: 8.418350336734014e-4
allele num: 119976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.19G>A
  hgvsp: ENSP00000298838.6:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.19G>A
  hgvsp: ENSP00000435672.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-150G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.19G>A
  hgvsp: ENSP00000440945.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.19G>A
  hgvsp: ENSP00000437252.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.19G>A
  hgvsp: ENSP00000431861.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.19G>A
  hgvsp: ENSP00000435638.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.19G>A
  hgvsp: ENSP00000431948.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.19G>A
  hgvsp: ENSP00000434699.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-150G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala7Thr
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

11-47204261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204261
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204261
    reference: chr 11
allele count: 6
allele frequency: 5.002084201750729e-5
allele num: 119950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.18C>T
  hgvsp: ENST00000530405.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.18C>T
  hgvsp: ENST00000531226.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.18C>T
  hgvsp: ENST00000524509.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.18C>T
  hgvsp: ENST00000532457.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.18C>T
  hgvsp: ENST00000298838.6:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.18C>T
  hgvsp: ENST00000539589.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-151C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-151C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.18C>T
  hgvsp: ENST00000528462.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.18C>T
  hgvsp: ENST00000525725.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp6Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-47204263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204263
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204263
    reference: chr 11
allele count: 2
allele frequency: 1.666861133798943e-5
allele num: 119986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.16G>A
  hgvsp: ENSP00000435672.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.16G>A
  hgvsp: ENSP00000431948.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.16G>A
  hgvsp: ENSP00000298838.6:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.16G>A
  hgvsp: ENSP00000434699.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.16G>A
  hgvsp: ENSP00000431861.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.16G>A
  hgvsp: ENSP00000435638.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-153G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-153G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.16G>A
  hgvsp: ENSP00000440945.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.16G>A
  hgvsp: ENSP00000437252.1:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp6Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

11-47204270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204270
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204270
    reference: chr 11
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.9A>G
  hgvsp: ENST00000539589.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-160A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.9A>G
  hgvsp: ENST00000530405.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.9A>G
  hgvsp: ENST00000298838.6:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.9A>G
  hgvsp: ENST00000532457.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.9A>G
  hgvsp: ENST00000528462.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.9A>G
  hgvsp: ENST00000524509.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-160A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.9A>G
  hgvsp: ENST00000525725.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.9A>G
  hgvsp: ENST00000531226.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro3Pro
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

11-47204275-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204275
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204275
    reference: chr 11
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.4G>C
  hgvsp: ENSP00000437252.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.4G>C
  hgvsp: ENSP00000431861.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-165G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-165G>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.4G>C
  hgvsp: ENSP00000440945.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.4G>C
  hgvsp: ENSP00000435638.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.4G>C
  hgvsp: ENSP00000298838.6:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.4G>C
  hgvsp: ENSP00000434699.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.4G>C
  hgvsp: ENSP00000435672.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.4G>C
  hgvsp: ENSP00000431948.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala2Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

11-47204279-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204279
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204279
    reference: chr 11
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-169C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-1C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-169C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-47204286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204286
    reference: chr 11
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-176G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-176G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6195
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

11-47204287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204287
    reference: chr 11
allele count: 2
allele frequency: 1.673388108904098e-5
allele num: 119518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-177G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-177G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35899
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-47204288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204288
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204288
    reference: chr 11
allele count: 4
allele frequency: 3.347616497054097e-5
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-178C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-178C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

11-47204294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204294
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204294
    reference: chr 11
allele count: 1
allele frequency: 8.381527114240214e-6
allele num: 119310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-184G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-184G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

11-47204295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204295
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204295
    reference: chr 11
allele count: 5
allele frequency: 4.191395902491366e-5
allele num: 119292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-185C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-185C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-47204298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204298
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204298
    reference: chr 11
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-188T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-188T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-20T>C
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

11-47204301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204301
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204301
    reference: chr 11
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-191C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-191C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-47204305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204305
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204305
    reference: chr 11
allele count: 4
allele frequency: 3.364341346072973e-5
allele num: 118894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-195G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-195G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-47204306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204306
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204306
    reference: chr 11
allele count: 4
allele frequency: 3.362135628551256e-5
allele num: 118972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-196C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-196C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

11-47204307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204307
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204307
    reference: chr 11
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-197C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-197C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

11-47204308-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204308
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204308
    reference: chr 11
allele count: 1
allele frequency: 8.406752303450132e-6
allele num: 118952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-198T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-198T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-30T>C
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

11-47204314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204314
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204314
    reference: chr 11
allele count: 1
allele frequency: 8.434405627435435e-6
allele num: 118562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-204C>T
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-204C>T
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
hgvs: c.-36C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

11-47204317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204317
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204317
    reference: chr 11
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-39A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-207A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-207A>G
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-37-2A>G
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
hgvs: c.-37-2A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-47204323-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47204323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47204323
    reference: chr 11
allele count: 9
allele frequency: 7.619757183737745e-5
allele num: 118114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435638
  ensembl transcript: ENST00000525725
  gene symbol: PACSIN3
  hgvsc: ENST00000525725.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000298838
  ensembl transcript: ENST00000298838
  gene symbol: PACSIN3
  hgvsc: ENST00000298838.6:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000437252
  ensembl transcript: ENST00000528462
  gene symbol: PACSIN3
  hgvsc: ENST00000528462.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431948
  ensembl transcript: ENST00000532457
  gene symbol: PACSIN3
  hgvsc: ENST00000532457.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434699
  ensembl transcript: ENST00000531226
  gene symbol: PACSIN3
  hgvsc: ENST00000531226.1:c.-45C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000435672
  ensembl transcript: ENST00000530405
  gene symbol: PACSIN3
  hgvsc: ENST00000530405.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431861
  ensembl transcript: ENST00000524509
  gene symbol: PACSIN3
  hgvsc: ENST00000524509.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000440945
  ensembl transcript: ENST00000539589
  gene symbol: PACSIN3
  hgvsc: ENST00000539589.1:c.-37-8C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000434521
  ensembl transcript: ENST00000528201
  gene symbol: PACSIN3
  hgvsc: ENST00000528201.1:c.-606-213C>A
  variant of: http://identifiers.org/hgnc/8572
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165912
  ensembl protein: ENSP00000431924
  ensembl transcript: ENST00000530513
  gene symbol: PACSIN3
  hgvsc: ENST00000530513.1:c.-606-213C>A
  variant of: http://identifiers.org/hgnc/8572
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-37-8C>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-47236641-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236641
    reference: chr 11
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-47C>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-47C>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-47C>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-47C>G
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

11-47236641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236641
    reference: chr 11
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-47C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52070
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

11-47236643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236643
    reference: chr 11
allele count: 11
allele frequency: 9.066332586047738e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-45A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-45A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-45A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-45A>G
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

11-47236651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236651
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236651
    reference: chr 11
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-37C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-37C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-37C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-37C>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16607
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52064
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-47236652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236652
    reference: chr 11
allele count: 20
allele frequency: 1.648342591524222e-4
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-36G>A
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52063
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 466
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

11-47236652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236652
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-36G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-36G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-36G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-36G>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 52063
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 59
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

11-47236657-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236657
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236657
    reference: chr 11
allele count: 8
allele frequency: 6.592935669430205e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-31G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-31G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-31G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-31G>C
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16595
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

11-47236659-G-GCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236661
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: GCA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-26_-25dupCA
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-26_-25dupCA
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-26_-25dupCA
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-26_-25dupCA
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52060
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

11-47236659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236659
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-29G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-29G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-29G>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-29G>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

11-47236663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236663
    reference: chr 11
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-25A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-25A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-25A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-25A>G
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

11-47236666-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236666
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236666
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-22A>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-22A>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-22A>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-22A>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52060
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-47236667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236667
    reference: chr 11
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-21C>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1199
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 466
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

11-47236673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236673
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-15C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-15C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-15C>T
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-15C>T
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16593
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 878
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-47236674-A-AGAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236678
    reference: chr 11
allele count: 31
allele frequency: 2.554299462773145e-4
allele num: 121364
alternate allele: AGAAG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-14_-13insGAAG
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-14_-13insGAAG
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-14_-13insGAAG
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-14_-13insGAAG
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4667
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 878
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-47236674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236674
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-14A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-14A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-14A>G
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-14A>G
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/11-47236674-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236673
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-13delC
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-13delC
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-13delC
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-13delC
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AC
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-47236678-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236678
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236678
    reference: chr 11
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.-10G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.-10G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.-10G>C
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.-10G>C
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16583
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-47236694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47236694
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47236694
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367866
  ensembl transcript: ENST00000378603
  gene symbol: DDB2
  hgvsc: ENST00000378603.3:c.7C>T
  hgvsp: ENSP00000367866.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000256996
  ensembl transcript: ENST00000256996
  gene symbol: DDB2
  hgvsc: ENST00000256996.4:c.7C>T
  hgvsp: ENSP00000256996.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367863
  ensembl transcript: ENST00000378600
  gene symbol: DDB2
  hgvsc: ENST00000378600.3:c.7C>T
  hgvsp: ENSP00000367863.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2718
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134574
  ensembl protein: ENSP00000367864
  ensembl transcript: ENST00000378601
  gene symbol: DDB2
  hgvsc: ENST00000378601.3:c.7C>T
  hgvsp: ENSP00000367864.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/2718
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro3Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46502
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 734
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1706
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028834504482675e-5
allele num: 66032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

DP
type: SiteQuality
SIO_000300: 3.814528e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
all individuals: 1697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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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bin: 9.75e1
variant carriers: 52

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 52
allele frequency: 6.04932526756631e-3
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.817062e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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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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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.538715241005779e-5
allele num: 66098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 3.816323e6

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.076606559361007e-5
allele num: 66104
num of homozygotes: 0

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

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

European (Finnish)
type: Population
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: 16388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.816825e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

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

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 199
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.937984496124031e-4
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 7.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.816217e6

QD
type: SiteQuality
SIO_000300: 1.15e1

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

GenotypeQuality
all individuals: 133
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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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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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

European (Finnish)
type: Population
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: 16346
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 4.447e0

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

DP
type: SiteQuality
SIO_000300: 3.815007e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 867
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02416306287235e-5
allele num: 66134
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.264e0

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 1.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 3.815044e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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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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bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46509
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.686e0

DP
type: SiteQuality
SIO_000300: 3.814788e6

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
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GenotypeQuality
all individuals: 6960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
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GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023248783142365e-5
allele num: 66154
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 3.81379e6

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

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.808888e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.455e0

FS
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQ
type: SiteQuality
SIO_000300: 5.623e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.123e1

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 46518
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
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: 8622
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.76328502415459e-4
allele num: 10350
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 3.806612e6

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1621
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variant carriers: 0

GenotypeQuality
all individuals: 46517
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 3.805172e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 860
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variant carriers: 0

GenotypeQuality
all individuals: 756
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variant carriers: 0

GenotypeQuality
all individuals: 344
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 5912
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 46517
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 778
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variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 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: 8624
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.944375772558715e-4
allele num: 16180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

DP
type: SiteQuality
SIO_000300: 3.804649e6

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 130
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 806
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.803741e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

FS
type: SiteQuality
SIO_000300: 1.752e0

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
all individuals: 779
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
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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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variant carriers: 34

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.760672203979138e-4
allele num: 10354
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-4
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.775066441169364e-4
allele num: 66224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 3.799798e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-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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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

DP
type: SiteQuality
SIO_000300: 3.797538e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 2.952e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.002e1

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
all individuals: 876
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GenotypeQuality
all individuals: 745
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 2.952e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 3.797538e6

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46537
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

FS
type: SiteQuality
SIO_000300: 6.419e0

VQSLOD
type: SiteQuality
SIO_000300: -1.243e0

DP
type: SiteQuality
SIO_000300: 3.796196e6

QD
type: SiteQuality
SIO_000300: 1.719e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54171
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.131702e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 2.578e1

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 107

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 235

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 172

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 117

GenotypeQuality
all individuals: 460
bin: 5.25e1
variant carriers: 430

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 191

GenotypeQuality
all individuals: 409
bin: 3.75e1
variant carriers: 361

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 175

GenotypeQuality
all individuals: 789
bin: 6.25e1
variant carriers: 366

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 226

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 90

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 247

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 241

GenotypeQuality
all individuals: 677
bin: 6.75e1
variant carriers: 352

GenotypeQuality
all individuals: 54171
bin: 9.75e1
variant carriers: 50424

Latino
type: Population
allele count: 6341
allele frequency: 5.484345268984605e-1
allele num: 11562
num of homozygotes: 1811

Other
type: Population
allele count: 665
allele frequency: 7.388888888888889e-1
allele num: 900
num of homozygotes: 251

East Asian
type: Population
allele count: 2955
allele frequency: 3.436845778087927e-1
allele num: 8598
num of homozygotes: 475

European (Non-Finnish)
type: Population
allele count: 51186
allele frequency: 7.708734939759037e-1
allele num: 66400
num of homozygotes: 19782

South Asian
type: Population
allele count: 11414
allele frequency: 7.235040567951319e-1
allele num: 15776
num of homozygotes: 4178

African
type: Population
allele count: 7894
allele frequency: 7.605009633911368e-1
allele num: 10380
num of homozygotes: 2989

European (Finnish)
type: Population
allele count: 4239
allele frequency: 6.409132143937103e-1
allele num: 6614
num of homozygotes: 1362

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 2.578e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 5.131702e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.61e-2

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.542e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 2.966689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.948811225152657e-4
allele num: 15394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

DP
type: SiteQuality
SIO_000300: 2.966689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 4517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35989
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15260
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 9.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

DP
type: SiteQuality
SIO_000300: 2.965735e6

QD
type: SiteQuality
SIO_000300: 1.705e1

VQSLOD
type: SiteQuality
SIO_000300: -9.169e-1

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
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variant carriers: 0

GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35966
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 4
allele frequency: 3.852822192255828e-4
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 2.964897e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35967
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 1303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
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variant carriers: 0

GenotypeQuality
all individuals: 1838
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variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

African
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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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allele frequency: 0.0e0
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South Asian
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Other
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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African
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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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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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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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European (Finnish)
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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South Asian
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allele num: 15332
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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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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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 count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.527415143603133e-5
allele num: 15320
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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MQRankSum
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DP
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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MQRankSum
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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QD
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DP
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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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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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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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variant carriers: 100

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 96
allele frequency: 9.236097748701174e-3
allele num: 10394
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.412722842118764e-5
allele num: 15594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

FS
type: SiteQuality
SIO_000300: 1.161e0

QD
type: SiteQuality
SIO_000300: 1.125e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.988962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 3410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.283202874374438e-4
allele num: 15586
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: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528301886792453e-5
allele num: 66250
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.983457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 9.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.766999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.982936e6

FS
type: SiteQuality
SIO_000300: 6.676e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.776e0

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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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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3053
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variant carriers: 0

GenotypeQuality
all individuals: 7068
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.437491953135059e-5
allele num: 15534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.879e0

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.980825e6

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1842
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2813
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GenotypeQuality
all individuals: 3049
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.464124111182935e-5
allele num: 15470
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.565e0

FS
type: SiteQuality
SIO_000300: 3.385e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 2.977441e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.605e-1

GenotypeQuality
all individuals: 1409
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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

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.953e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 2.975502e6

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: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15312
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.929e0

DP
type: SiteQuality
SIO_000300: 2.970352e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 1.59e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

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: 11564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
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African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.391e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.536107415023588e-5
allele num: 66136
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 2.968824e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2854
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GenotypeQuality
all individuals: 3410
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 10356
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 2.962231e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 3.961e0

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-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: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 2774
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.541326067211626e-5
allele num: 66060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15166
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

DP
type: SiteQuality
SIO_000300: 2.960533e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 35891
bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5014
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514921981517952e-5
allele num: 66010
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15102
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 4.036e0

DP
type: SiteQuality
SIO_000300: 2.955156e6

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 2.953754e6

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 92
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.700616456714018e-5
allele num: 14924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 2.948761e6

QD
type: SiteQuality
SIO_000300: 1.246e1

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.065384848668648e-5
allele num: 65948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

FS
type: SiteQuality
SIO_000300: 6.354e0

VQSLOD
type: SiteQuality
SIO_000300: -1.224e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 2.947006e6

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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14972
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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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
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VQSLOD
type: SiteQuality
SIO_000300: -5.997e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 2.945805e6

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.489e0

FS
type: SiteQuality
SIO_000300: 8.757999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 884
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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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: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14964
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.516e0

QD
type: SiteQuality
SIO_000300: 1.648e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.944449e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e0

GenotypeQuality
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bin: 2.75e1
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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bin: 8.25e1
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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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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.792555359326178e-5
allele num: 14722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.936135e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.209e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.17e1

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
all individuals: 1430
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GenotypeQuality
all individuals: 3863
bin: 6.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 2.935152e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.223e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 797
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
all individuals: 3395
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GenotypeQuality
all individuals: 3302
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.218546274294766e-4
allele num: 65652
num of homozygotes: 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: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.741e0

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 2.929165e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
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: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.554e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 4.773446e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
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GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.554e0

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 4.773446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.041425595926869e-3
allele num: 8642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.445e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.773659e6

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.336e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.773965e6

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.998590662388677e-4
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1325
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52061
bin: 9.75e1
variant carriers: 8

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049443794788762e-4
allele num: 66702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 4.773975e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

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

GenotypeQuality
all individuals: 871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.182e0

DP
type: SiteQuality
SIO_000300: 4.773536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.666e1

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 1.666e1

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.773536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

FS
type: SiteQuality
SIO_000300: 2.182e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.77379e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

FS
type: SiteQuality
SIO_000300: 7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.649e0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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

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

QD
type: SiteQuality
SIO_000300: 1.798e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.032e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 4.774009e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

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

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

GenotypeQuality
all individuals: 872
bin: 8.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.929e0

QD
type: SiteQuality
SIO_000300: 1.869e1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.113e0

DP
type: SiteQuality
SIO_000300: 4.774034e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 5.396e0

QD
type: SiteQuality
SIO_000300: 1.093e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.775433e6

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 29
allele frequency: 2.790071194920146e-3
allele num: 10394
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.776123e6

FS
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: -3.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.47e1

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.4e-1

FS
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 5.47e1

MQRankSum
type: SiteQuality
SIO_000300: -3.103e0

DP
type: SiteQuality
SIO_000300: 4.776123e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

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

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

GenotypeQuality
all individuals: 52071
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -3.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 4.776123e6

QD
type: SiteQuality
SIO_000300: 1.316e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.886280546469117e-4
allele num: 10394
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
SIO_000300: 4.774024e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

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

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.431e0

FS
type: SiteQuality
SIO_000300: 3.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.704e0

MQ
type: SiteQuality
SIO_000300: 5.954e1