8-144994695-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994695
    reference: chr 8
allele count: 3
allele frequency: 2.616841995080337e-5
allele num: 114642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9375C>G
  hgvsp: ENST00000436759.2:c.9375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9306C>G
  hgvsp: ENST00000357649.2:c.9306C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9363C>G
  hgvsp: ENST00000527096.1:c.9363C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9252C>G
  hgvsp: ENST00000356346.3:c.9252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9228C>G
  hgvsp: ENST00000354958.2:c.9228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9198C>G
  hgvsp: ENST00000398774.2:c.9198C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9294C>G
  hgvsp: ENST00000345136.3:c.9294C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9294C>G
  hgvsp: ENST00000354589.3:c.9294C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9705C>G
  hgvsp: ENST00000322810.4:c.9705C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala3235Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

8-144994697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994697
    reference: chr 8
allele count: 1
allele frequency: 8.715356458079136e-6
allele num: 114740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9196G>A
  hgvsp: ENSP00000381756.2:p.Ala3066Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9304G>A
  hgvsp: ENSP00000350277.2:p.Ala3102Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9292G>A
  hgvsp: ENSP00000346602.3:p.Ala3098Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9361G>A
  hgvsp: ENSP00000434583.1:p.Ala3121Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9226G>A
  hgvsp: ENSP00000347044.2:p.Ala3076Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9292G>A
  hgvsp: ENSP00000344848.3:p.Ala3098Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9373G>A
  hgvsp: ENSP00000388180.2:p.Ala3125Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9703G>A
  hgvsp: ENSP00000323856.4:p.Ala3235Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9250G>A
  hgvsp: ENSP00000348702.3:p.Ala3084Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala3235Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

8-144994699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994699
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994699
    reference: chr 8
allele count: 8
allele frequency: 6.963667067077523e-5
allele num: 114882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9224C>T
  hgvsp: ENSP00000347044.2:p.Ser3075Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9290C>T
  hgvsp: ENSP00000344848.3:p.Ser3097Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9371C>T
  hgvsp: ENSP00000388180.2:p.Ser3124Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9248C>T
  hgvsp: ENSP00000348702.3:p.Ser3083Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9194C>T
  hgvsp: ENSP00000381756.2:p.Ser3065Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9359C>T
  hgvsp: ENSP00000434583.1:p.Ser3120Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9290C>T
  hgvsp: ENSP00000346602.3:p.Ser3097Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9701C>T
  hgvsp: ENSP00000323856.4:p.Ser3234Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9302C>T
  hgvsp: ENSP00000350277.2:p.Ser3101Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser3234Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-144994701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994701
    reference: chr 8
allele count: 3
allele frequency: 2.610239097901368e-5
allele num: 114932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9288A>G
  hgvsp: ENST00000345136.3:c.9288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9288A>G
  hgvsp: ENST00000354589.3:c.9288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9300A>G
  hgvsp: ENST00000357649.2:c.9300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9222A>G
  hgvsp: ENST00000354958.2:c.9222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9246A>G
  hgvsp: ENST00000356346.3:c.9246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9369A>G
  hgvsp: ENST00000436759.2:c.9369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9357A>G
  hgvsp: ENST00000527096.1:c.9357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9192A>G
  hgvsp: ENST00000398774.2:c.9192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9699A>G
  hgvsp: ENST00000322810.4:c.9699A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu3233Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-144994719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994719
    reference: chr 8
allele count: 1
allele frequency: 8.685380767092829e-6
allele num: 115136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9351G>A
  hgvsp: ENST00000436759.2:c.9351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9228G>A
  hgvsp: ENST00000356346.3:c.9228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9681G>A
  hgvsp: ENST00000322810.4:c.9681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9174G>A
  hgvsp: ENST00000398774.2:c.9174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9282G>A
  hgvsp: ENST00000357649.2:c.9282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9204G>A
  hgvsp: ENST00000354958.2:c.9204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9270G>A
  hgvsp: ENST00000345136.3:c.9270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9339G>A
  hgvsp: ENST00000527096.1:c.9339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9270G>A
  hgvsp: ENST00000354589.3:c.9270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu3227Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-144994721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994721
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994721
    reference: chr 8
allele count: 1
allele frequency: 8.689456213830139e-6
allele num: 115082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9268G>A
  hgvsp: ENSP00000346602.3:p.Glu3090Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9202G>A
  hgvsp: ENSP00000347044.2:p.Glu3068Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9337G>A
  hgvsp: ENSP00000434583.1:p.Glu3113Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9172G>A
  hgvsp: ENSP00000381756.2:p.Glu3058Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9268G>A
  hgvsp: ENSP00000344848.3:p.Glu3090Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9679G>A
  hgvsp: ENSP00000323856.4:p.Glu3227Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9349G>A
  hgvsp: ENSP00000388180.2:p.Glu3117Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9226G>A
  hgvsp: ENSP00000348702.3:p.Glu3076Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9280G>A
  hgvsp: ENSP00000350277.2:p.Glu3094Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17415
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu3227Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

8-144994722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994722
    reference: chr 8
allele count: 4
allele frequency: 3.473910928923782e-5
allele num: 115144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9201C>T
  hgvsp: ENST00000354958.2:c.9201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9678C>T
  hgvsp: ENST00000322810.4:c.9678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9348C>T
  hgvsp: ENST00000436759.2:c.9348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9279C>T
  hgvsp: ENST00000357649.2:c.9279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9267C>T
  hgvsp: ENST00000345136.3:c.9267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9225C>T
  hgvsp: ENST00000356346.3:c.9225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9171C>T
  hgvsp: ENST00000398774.2:c.9171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9336C>T
  hgvsp: ENST00000527096.1:c.9336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9267C>T
  hgvsp: ENST00000354589.3:c.9267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro3226Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-144994730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994730
    reference: chr 8
allele count: 2
allele frequency: 1.736744299136838e-5
allele num: 115158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9670G>T
  hgvsp: ENSP00000323856.4:p.Val3224Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9163G>T
  hgvsp: ENSP00000381756.2:p.Val3055Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9259G>T
  hgvsp: ENSP00000344848.3:p.Val3087Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9340G>T
  hgvsp: ENSP00000388180.2:p.Val3114Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9217G>T
  hgvsp: ENSP00000348702.3:p.Val3073Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9271G>T
  hgvsp: ENSP00000350277.2:p.Val3091Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9328G>T
  hgvsp: ENSP00000434583.1:p.Val3110Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9193G>T
  hgvsp: ENSP00000347044.2:p.Val3065Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9259G>T
  hgvsp: ENSP00000346602.3:p.Val3087Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val3224Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-144994741-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994741
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994741
    reference: chr 8
allele count: 1
allele frequency: 8.696710903936131e-6
allele num: 114986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9248G>T
  hgvsp: ENSP00000344848.3:p.Arg3083Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9659G>T
  hgvsp: ENSP00000323856.4:p.Arg3220Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9182G>T
  hgvsp: ENSP00000347044.2:p.Arg3061Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9152G>T
  hgvsp: ENSP00000381756.2:p.Arg3051Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9329G>T
  hgvsp: ENSP00000388180.2:p.Arg3110Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9260G>T
  hgvsp: ENSP00000350277.2:p.Arg3087Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9206G>T
  hgvsp: ENSP00000348702.3:p.Arg3069Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9317G>T
  hgvsp: ENSP00000434583.1:p.Arg3106Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9248G>T
  hgvsp: ENSP00000346602.3:p.Arg3083Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg3220Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

8-144994742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994742
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994742
    reference: chr 8
allele count: 11
allele frequency: 9.565716472163765e-5
allele num: 114994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9328C>T
  hgvsp: ENSP00000388180.2:p.Arg3110Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9247C>T
  hgvsp: ENSP00000344848.3:p.Arg3083Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9205C>T
  hgvsp: ENSP00000348702.3:p.Arg3069Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9316C>T
  hgvsp: ENSP00000434583.1:p.Arg3106Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9181C>T
  hgvsp: ENSP00000347044.2:p.Arg3061Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9247C>T
  hgvsp: ENSP00000346602.3:p.Arg3083Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9259C>T
  hgvsp: ENSP00000350277.2:p.Arg3087Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9151C>T
  hgvsp: ENSP00000381756.2:p.Arg3051Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9658C>T
  hgvsp: ENSP00000323856.4:p.Arg3220Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg3220Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-144994742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994742
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994742
    reference: chr 8
allele count: 1
allele frequency: 8.696105883785241e-6
allele num: 114994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9259C>A
  hgvsp: ENSP00000350277.2:p.Arg3087Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9205C>A
  hgvsp: ENSP00000348702.3:p.Arg3069Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9247C>A
  hgvsp: ENSP00000346602.3:p.Arg3083Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9316C>A
  hgvsp: ENSP00000434583.1:p.Arg3106Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9328C>A
  hgvsp: ENSP00000388180.2:p.Arg3110Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9181C>A
  hgvsp: ENSP00000347044.2:p.Arg3061Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9151C>A
  hgvsp: ENSP00000381756.2:p.Arg3051Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9658C>A
  hgvsp: ENSP00000323856.4:p.Arg3220Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9247C>A
  hgvsp: ENSP00000344848.3:p.Arg3083Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg3220Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-144994747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994747
    reference: chr 8
allele count: 2
allele frequency: 1.738888502469222e-5
allele num: 115016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9254C>T
  hgvsp: ENSP00000350277.2:p.Ala3085Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9242C>T
  hgvsp: ENSP00000346602.3:p.Ala3081Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9653C>T
  hgvsp: ENSP00000323856.4:p.Ala3218Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9323C>T
  hgvsp: ENSP00000388180.2:p.Ala3108Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9176C>T
  hgvsp: ENSP00000347044.2:p.Ala3059Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9311C>T
  hgvsp: ENSP00000434583.1:p.Ala3104Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9146C>T
  hgvsp: ENSP00000381756.2:p.Ala3049Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9200C>T
  hgvsp: ENSP00000348702.3:p.Ala3067Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9242C>T
  hgvsp: ENSP00000344848.3:p.Ala3081Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala3218Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-144994748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994748
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994748
    reference: chr 8
allele count: 1
allele frequency: 8.699737267934509e-6
allele num: 114946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9241G>A
  hgvsp: ENSP00000346602.3:p.Ala3081Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9175G>A
  hgvsp: ENSP00000347044.2:p.Ala3059Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9241G>A
  hgvsp: ENSP00000344848.3:p.Ala3081Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9145G>A
  hgvsp: ENSP00000381756.2:p.Ala3049Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9652G>A
  hgvsp: ENSP00000323856.4:p.Ala3218Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9199G>A
  hgvsp: ENSP00000348702.3:p.Ala3067Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9322G>A
  hgvsp: ENSP00000388180.2:p.Ala3108Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9310G>A
  hgvsp: ENSP00000434583.1:p.Ala3104Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9253G>A
  hgvsp: ENSP00000350277.2:p.Ala3085Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala3218Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-144994750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994750
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994750
    reference: chr 8
allele count: 11
allele frequency: 9.577710056595559e-5
allele num: 114850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9308A>G
  hgvsp: ENSP00000434583.1:p.Glu3103Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9239A>G
  hgvsp: ENSP00000346602.3:p.Glu3080Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9239A>G
  hgvsp: ENSP00000344848.3:p.Glu3080Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9173A>G
  hgvsp: ENSP00000347044.2:p.Glu3058Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9251A>G
  hgvsp: ENSP00000350277.2:p.Glu3084Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9320A>G
  hgvsp: ENSP00000388180.2:p.Glu3107Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9143A>G
  hgvsp: ENSP00000381756.2:p.Glu3048Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9650A>G
  hgvsp: ENSP00000323856.4:p.Glu3217Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9197A>G
  hgvsp: ENSP00000348702.3:p.Glu3066Gly
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17691
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42857
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu3217Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

8-144994751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994751
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994751
    reference: chr 8
allele count: 4
allele frequency: 3.483531604340481e-5
allele num: 114826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9250G>A
  hgvsp: ENSP00000350277.2:p.Glu3084Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9307G>A
  hgvsp: ENSP00000434583.1:p.Glu3103Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9238G>A
  hgvsp: ENSP00000346602.3:p.Glu3080Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9172G>A
  hgvsp: ENSP00000347044.2:p.Glu3058Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9319G>A
  hgvsp: ENSP00000388180.2:p.Glu3107Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9238G>A
  hgvsp: ENSP00000344848.3:p.Glu3080Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9649G>A
  hgvsp: ENSP00000323856.4:p.Glu3217Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9196G>A
  hgvsp: ENSP00000348702.3:p.Glu3066Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9142G>A
  hgvsp: ENSP00000381756.2:p.Glu3048Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu3217Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

8-144994752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994752
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994752
    reference: chr 8
allele count: 6
allele frequency: 5.224387440572593e-5
allele num: 114846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9237C>T
  hgvsp: ENST00000345136.3:c.9237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9141C>T
  hgvsp: ENST00000398774.2:c.9141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9195C>T
  hgvsp: ENST00000356346.3:c.9195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9306C>T
  hgvsp: ENST00000527096.1:c.9306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9237C>T
  hgvsp: ENST00000354589.3:c.9237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9648C>T
  hgvsp: ENST00000322810.4:c.9648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9171C>T
  hgvsp: ENST00000354958.2:c.9171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9249C>T
  hgvsp: ENST00000357649.2:c.9249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9318C>T
  hgvsp: ENST00000436759.2:c.9318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp3216Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144994757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994757
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994757
    reference: chr 8
allele count: 2
allele frequency: 1.743557554834885e-5
allele num: 114708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9166G>A
  hgvsp: ENSP00000347044.2:p.Val3056Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9232G>A
  hgvsp: ENSP00000346602.3:p.Val3078Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9136G>A
  hgvsp: ENSP00000381756.2:p.Val3046Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9232G>A
  hgvsp: ENSP00000344848.3:p.Val3078Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9301G>A
  hgvsp: ENSP00000434583.1:p.Val3101Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9313G>A
  hgvsp: ENSP00000388180.2:p.Val3105Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9244G>A
  hgvsp: ENSP00000350277.2:p.Val3082Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9643G>A
  hgvsp: ENSP00000323856.4:p.Val3215Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9190G>A
  hgvsp: ENSP00000348702.3:p.Val3064Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val3215Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-144994758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994758
    reference: chr 8
allele count: 6
allele frequency: 5.232771101149465e-5
allele num: 114662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9189C>T
  hgvsp: ENST00000356346.3:c.9189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9165C>T
  hgvsp: ENST00000354958.2:c.9165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9231C>T
  hgvsp: ENST00000354589.3:c.9231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9231C>T
  hgvsp: ENST00000345136.3:c.9231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9300C>T
  hgvsp: ENST00000527096.1:c.9300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9642C>T
  hgvsp: ENST00000322810.4:c.9642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9243C>T
  hgvsp: ENST00000357649.2:c.9243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9312C>T
  hgvsp: ENST00000436759.2:c.9312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9135C>T
  hgvsp: ENST00000398774.2:c.9135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr3214Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

8-144994765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994765
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994765
    reference: chr 8
allele count: 3
allele frequency: 2.619629758994062e-5
allele num: 114520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9158G>A
  hgvsp: ENSP00000347044.2:p.Arg3053Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9128G>A
  hgvsp: ENSP00000381756.2:p.Arg3043Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9182G>A
  hgvsp: ENSP00000348702.3:p.Arg3061Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9224G>A
  hgvsp: ENSP00000344848.3:p.Arg3075Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9305G>A
  hgvsp: ENSP00000388180.2:p.Arg3102Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9293G>A
  hgvsp: ENSP00000434583.1:p.Arg3098Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9635G>A
  hgvsp: ENSP00000323856.4:p.Arg3212Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9236G>A
  hgvsp: ENSP00000350277.2:p.Arg3079Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9224G>A
  hgvsp: ENSP00000346602.3:p.Arg3075Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg3212Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-144994766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994766
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994766
    reference: chr 8
allele count: 8
allele frequency: 6.992273537740796e-5
allele num: 114412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9634C>T
  hgvsp: ENSP00000323856.4:p.Arg3212Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9127C>T
  hgvsp: ENSP00000381756.2:p.Arg3043Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9292C>T
  hgvsp: ENSP00000434583.1:p.Arg3098Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9223C>T
  hgvsp: ENSP00000346602.3:p.Arg3075Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9223C>T
  hgvsp: ENSP00000344848.3:p.Arg3075Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9157C>T
  hgvsp: ENSP00000347044.2:p.Arg3053Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9304C>T
  hgvsp: ENSP00000388180.2:p.Arg3102Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9181C>T
  hgvsp: ENSP00000348702.3:p.Arg3061Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9235C>T
  hgvsp: ENSP00000350277.2:p.Arg3079Trp
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg3212Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144994768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994768
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994768
    reference: chr 8
allele count: 5
allele frequency: 4.372005176454129e-5
allele num: 114364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9155C>T
  hgvsp: ENSP00000347044.2:p.Ala3052Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9233C>T
  hgvsp: ENSP00000350277.2:p.Ala3078Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9221C>T
  hgvsp: ENSP00000344848.3:p.Ala3074Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9221C>T
  hgvsp: ENSP00000346602.3:p.Ala3074Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9632C>T
  hgvsp: ENSP00000323856.4:p.Ala3211Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9179C>T
  hgvsp: ENSP00000348702.3:p.Ala3060Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9290C>T
  hgvsp: ENSP00000434583.1:p.Ala3097Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9125C>T
  hgvsp: ENSP00000381756.2:p.Ala3042Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9302C>T
  hgvsp: ENSP00000388180.2:p.Ala3101Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala3211Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-144994769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994769
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994769
    reference: chr 8
allele count: 17
allele frequency: 1.486273824095121e-4
allele num: 114380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9232G>A
  hgvsp: ENSP00000350277.2:p.Ala3078Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9631G>A
  hgvsp: ENSP00000323856.4:p.Ala3211Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9220G>A
  hgvsp: ENSP00000344848.3:p.Ala3074Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9154G>A
  hgvsp: ENSP00000347044.2:p.Ala3052Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9301G>A
  hgvsp: ENSP00000388180.2:p.Ala3101Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9178G>A
  hgvsp: ENSP00000348702.3:p.Ala3060Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9289G>A
  hgvsp: ENSP00000434583.1:p.Ala3097Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9124G>A
  hgvsp: ENSP00000381756.2:p.Ala3042Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9220G>A
  hgvsp: ENSP00000346602.3:p.Ala3074Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala3211Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

8-144994771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994771
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994771
    reference: chr 8
allele count: 3
allele frequency: 2.623203105872477e-5
allele num: 114364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9152G>C
  hgvsp: ENSP00000347044.2:p.Ser3051Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9218G>C
  hgvsp: ENSP00000344848.3:p.Ser3073Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9218G>C
  hgvsp: ENSP00000346602.3:p.Ser3073Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9287G>C
  hgvsp: ENSP00000434583.1:p.Ser3096Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9122G>C
  hgvsp: ENSP00000381756.2:p.Ser3041Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9230G>C
  hgvsp: ENSP00000350277.2:p.Ser3077Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9299G>C
  hgvsp: ENSP00000388180.2:p.Ser3100Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9176G>C
  hgvsp: ENSP00000348702.3:p.Ser3059Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9629G>C
  hgvsp: ENSP00000323856.4:p.Ser3210Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser3210Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-144994772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994772
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994772
    reference: chr 8
allele count: 1
allele frequency: 8.745539774714895e-6
allele num: 114344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9286A>G
  hgvsp: ENSP00000434583.1:p.Ser3096Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9298A>G
  hgvsp: ENSP00000388180.2:p.Ser3100Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9229A>G
  hgvsp: ENSP00000350277.2:p.Ser3077Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9217A>G
  hgvsp: ENSP00000346602.3:p.Ser3073Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9151A>G
  hgvsp: ENSP00000347044.2:p.Ser3051Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9175A>G
  hgvsp: ENSP00000348702.3:p.Ser3059Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9628A>G
  hgvsp: ENSP00000323856.4:p.Ser3210Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9121A>G
  hgvsp: ENSP00000381756.2:p.Ser3041Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9217A>G
  hgvsp: ENSP00000344848.3:p.Ser3073Gly
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser3210Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-144994778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994778
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994778
    reference: chr 8
allele count: 2
allele frequency: 1.751344156640221e-5
allele num: 114198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9211G>A
  hgvsp: ENSP00000346602.3:p.Ala3071Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9622G>A
  hgvsp: ENSP00000323856.4:p.Ala3208Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9292G>A
  hgvsp: ENSP00000388180.2:p.Ala3098Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9169G>A
  hgvsp: ENSP00000348702.3:p.Ala3057Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9223G>A
  hgvsp: ENSP00000350277.2:p.Ala3075Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9145G>A
  hgvsp: ENSP00000347044.2:p.Ala3049Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9115G>A
  hgvsp: ENSP00000381756.2:p.Ala3039Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9211G>A
  hgvsp: ENSP00000344848.3:p.Ala3071Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9280G>A
  hgvsp: ENSP00000434583.1:p.Ala3094Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala3208Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

8-144994779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994779
    reference: chr 8
allele count: 9
allele frequency: 7.880910683012259e-5
allele num: 114200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9144C>T
  hgvsp: ENST00000354958.2:c.9144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9291C>T
  hgvsp: ENST00000436759.2:c.9291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9222C>T
  hgvsp: ENST00000357649.2:c.9222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9621C>T
  hgvsp: ENST00000322810.4:c.9621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9168C>T
  hgvsp: ENST00000356346.3:c.9168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9114C>T
  hgvsp: ENST00000398774.2:c.9114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9210C>T
  hgvsp: ENST00000354589.3:c.9210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9210C>T
  hgvsp: ENST00000345136.3:c.9210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9279C>T
  hgvsp: ENST00000527096.1:c.9279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro3207Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

8-144994784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994784
    reference: chr 8
allele count: 1
allele frequency: 8.763627440670242e-6
allele num: 114108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9163G>A
  hgvsp: ENSP00000348702.3:p.Asp3055Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9109G>A
  hgvsp: ENSP00000381756.2:p.Asp3037Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9286G>A
  hgvsp: ENSP00000388180.2:p.Asp3096Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9217G>A
  hgvsp: ENSP00000350277.2:p.Asp3073Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9274G>A
  hgvsp: ENSP00000434583.1:p.Asp3092Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9205G>A
  hgvsp: ENSP00000346602.3:p.Asp3069Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9616G>A
  hgvsp: ENSP00000323856.4:p.Asp3206Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9139G>A
  hgvsp: ENSP00000347044.2:p.Asp3047Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9205G>A
  hgvsp: ENSP00000344848.3:p.Asp3069Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp3206Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

8-144994790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994790
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994790
    reference: chr 8
allele count: 1
allele frequency: 8.764549151591641e-6
allele num: 114096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9268A>G
  hgvsp: ENSP00000434583.1:p.Ile3090Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9157A>G
  hgvsp: ENSP00000348702.3:p.Ile3053Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9211A>G
  hgvsp: ENSP00000350277.2:p.Ile3071Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9133A>G
  hgvsp: ENSP00000347044.2:p.Ile3045Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9199A>G
  hgvsp: ENSP00000346602.3:p.Ile3067Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9103A>G
  hgvsp: ENSP00000381756.2:p.Ile3035Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9610A>G
  hgvsp: ENSP00000323856.4:p.Ile3204Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9199A>G
  hgvsp: ENSP00000344848.3:p.Ile3067Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9280A>G
  hgvsp: ENSP00000388180.2:p.Ile3094Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile3204Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

8-144994791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994791
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994791
    reference: chr 8
allele count: 1
allele frequency: 8.774546794658055e-6
allele num: 113966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9198C>T
  hgvsp: ENST00000354589.3:c.9198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9102C>T
  hgvsp: ENST00000398774.2:c.9102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9198C>T
  hgvsp: ENST00000345136.3:c.9198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9267C>T
  hgvsp: ENST00000527096.1:c.9267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9156C>T
  hgvsp: ENST00000356346.3:c.9156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9132C>T
  hgvsp: ENST00000354958.2:c.9132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9210C>T
  hgvsp: ENST00000357649.2:c.9210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9609C>T
  hgvsp: ENST00000322810.4:c.9609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9279C>T
  hgvsp: ENST00000436759.2:c.9279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His3203His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-144994792-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994792
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994792
    reference: chr 8
allele count: 1
allele frequency: 8.774084862948794e-6
allele num: 113972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9155A>T
  hgvsp: ENSP00000348702.3:p.His3052Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9608A>T
  hgvsp: ENSP00000323856.4:p.His3203Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9266A>T
  hgvsp: ENSP00000434583.1:p.His3089Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9131A>T
  hgvsp: ENSP00000347044.2:p.His3044Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9209A>T
  hgvsp: ENSP00000350277.2:p.His3070Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9197A>T
  hgvsp: ENSP00000346602.3:p.His3066Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9197A>T
  hgvsp: ENSP00000344848.3:p.His3066Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9101A>T
  hgvsp: ENSP00000381756.2:p.His3034Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9278A>T
  hgvsp: ENSP00000388180.2:p.His3093Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His3203Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

8-144994794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994794
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994794
    reference: chr 8
allele count: 1
allele frequency: 8.77654906090925e-6
allele num: 113940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9099G>A
  hgvsp: ENST00000398774.2:c.9099G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9195G>A
  hgvsp: ENST00000354589.3:c.9195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9207G>A
  hgvsp: ENST00000357649.2:c.9207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9264G>A
  hgvsp: ENST00000527096.1:c.9264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9129G>A
  hgvsp: ENST00000354958.2:c.9129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9195G>A
  hgvsp: ENST00000345136.3:c.9195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9276G>A
  hgvsp: ENST00000436759.2:c.9276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9153G>A
  hgvsp: ENST00000356346.3:c.9153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9606G>A
  hgvsp: ENST00000322810.4:c.9606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly3202Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144994794-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994794
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994794
    reference: chr 8
allele count: 1
allele frequency: 8.77654906090925e-6
allele num: 113940
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9606G>C
  hgvsp: ENST00000322810.4:c.9606G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9129G>C
  hgvsp: ENST00000354958.2:c.9129G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9264G>C
  hgvsp: ENST00000527096.1:c.9264G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9153G>C
  hgvsp: ENST00000356346.3:c.9153G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9195G>C
  hgvsp: ENST00000354589.3:c.9195G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9207G>C
  hgvsp: ENST00000357649.2:c.9207G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9195G>C
  hgvsp: ENST00000345136.3:c.9195G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9276G>C
  hgvsp: ENST00000436759.2:c.9276G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9099G>C
  hgvsp: ENST00000398774.2:c.9099G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly3202Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-144994796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994796
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994796
    reference: chr 8
allele count: 4
allele frequency: 3.512901129397713e-5
allele num: 113866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9193G>A
  hgvsp: ENSP00000344848.3:p.Gly3065Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9604G>A
  hgvsp: ENSP00000323856.4:p.Gly3202Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9205G>A
  hgvsp: ENSP00000350277.2:p.Gly3069Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9262G>A
  hgvsp: ENSP00000434583.1:p.Gly3088Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9193G>A
  hgvsp: ENSP00000346602.3:p.Gly3065Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9274G>A
  hgvsp: ENSP00000388180.2:p.Gly3092Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9151G>A
  hgvsp: ENSP00000348702.3:p.Gly3051Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9097G>A
  hgvsp: ENSP00000381756.2:p.Gly3033Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9127G>A
  hgvsp: ENSP00000347044.2:p.Gly3043Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32303
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly3202Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

8-144994797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994797
    reference: chr 8
allele count: 2
allele frequency: 1.755710448232878e-5
allele num: 113914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9603C>T
  hgvsp: ENST00000322810.4:c.9603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9192C>T
  hgvsp: ENST00000345136.3:c.9192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9150C>T
  hgvsp: ENST00000356346.3:c.9150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9273C>T
  hgvsp: ENST00000436759.2:c.9273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9096C>T
  hgvsp: ENST00000398774.2:c.9096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9126C>T
  hgvsp: ENST00000354958.2:c.9126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9204C>T
  hgvsp: ENST00000357649.2:c.9204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9261C>T
  hgvsp: ENST00000527096.1:c.9261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9192C>T
  hgvsp: ENST00000354589.3:c.9192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr3201Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

8-144994798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994798
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994798
    reference: chr 8
allele count: 8
allele frequency: 7.023335030639299e-5
allele num: 113906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9203C>T
  hgvsp: ENSP00000350277.2:p.Thr3068Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9191C>T
  hgvsp: ENSP00000344848.3:p.Thr3064Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9125C>T
  hgvsp: ENSP00000347044.2:p.Thr3042Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9095C>T
  hgvsp: ENSP00000381756.2:p.Thr3032Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9191C>T
  hgvsp: ENSP00000346602.3:p.Thr3064Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9602C>T
  hgvsp: ENSP00000323856.4:p.Thr3201Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9272C>T
  hgvsp: ENSP00000388180.2:p.Thr3091Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9260C>T
  hgvsp: ENSP00000434583.1:p.Thr3087Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9149C>T
  hgvsp: ENSP00000348702.3:p.Thr3050Ile
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr3201Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

8-144994802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994802
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994802
    reference: chr 8
allele count: 5
allele frequency: 4.389199058955722e-5
allele num: 113916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9187G>A
  hgvsp: ENSP00000346602.3:p.Gly3063Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9256G>A
  hgvsp: ENSP00000434583.1:p.Gly3086Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9268G>A
  hgvsp: ENSP00000388180.2:p.Gly3090Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9187G>A
  hgvsp: ENSP00000344848.3:p.Gly3063Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9199G>A
  hgvsp: ENSP00000350277.2:p.Gly3067Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9121G>A
  hgvsp: ENSP00000347044.2:p.Gly3041Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9091G>A
  hgvsp: ENSP00000381756.2:p.Gly3031Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9598G>A
  hgvsp: ENSP00000323856.4:p.Gly3200Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9145G>A
  hgvsp: ENSP00000348702.3:p.Gly3049Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly3200Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-144994803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994803
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994803
    reference: chr 8
allele count: 65
allele frequency: 5.707060951410961e-4
allele num: 113894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9144C>T
  hgvsp: ENST00000356346.3:c.9144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9255C>T
  hgvsp: ENST00000527096.1:c.9255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9186C>T
  hgvsp: ENST00000354589.3:c.9186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9186C>T
  hgvsp: ENST00000345136.3:c.9186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9120C>T
  hgvsp: ENST00000354958.2:c.9120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9198C>T
  hgvsp: ENST00000357649.2:c.9198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9267C>T
  hgvsp: ENST00000436759.2:c.9267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9597C>T
  hgvsp: ENST00000322810.4:c.9597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9090C>T
  hgvsp: ENST00000398774.2:c.9090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18040
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32306
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala3199Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

8-144994806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994806
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994806
    reference: chr 8
allele count: 3
allele frequency: 2.632086893961993e-5
allele num: 113978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9183G>C
  hgvsp: ENSP00000344848.3:p.Gln3061His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9141G>C
  hgvsp: ENSP00000348702.3:p.Gln3047His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9195G>C
  hgvsp: ENSP00000350277.2:p.Gln3065His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9252G>C
  hgvsp: ENSP00000434583.1:p.Gln3084His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9264G>C
  hgvsp: ENSP00000388180.2:p.Gln3088His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9183G>C
  hgvsp: ENSP00000346602.3:p.Gln3061His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9594G>C
  hgvsp: ENSP00000323856.4:p.Gln3198His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9117G>C
  hgvsp: ENSP00000347044.2:p.Gln3039His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9087G>C
  hgvsp: ENSP00000381756.2:p.Gln3029His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32390
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln3198His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-144994819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994819
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994819
    reference: chr 8
allele count: 1
allele frequency: 8.763934656103204e-6
allele num: 114104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9074T>C
  hgvsp: ENSP00000381756.2:p.Leu3025Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9128T>C
  hgvsp: ENSP00000348702.3:p.Leu3043Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9104T>C
  hgvsp: ENSP00000347044.2:p.Leu3035Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9170T>C
  hgvsp: ENSP00000344848.3:p.Leu3057Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9182T>C
  hgvsp: ENSP00000350277.2:p.Leu3061Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9581T>C
  hgvsp: ENSP00000323856.4:p.Leu3194Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9239T>C
  hgvsp: ENSP00000434583.1:p.Leu3080Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9170T>C
  hgvsp: ENSP00000346602.3:p.Leu3057Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9251T>C
  hgvsp: ENSP00000388180.2:p.Leu3084Pro
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu3194Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-144994820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994820
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994820
    reference: chr 8
allele count: 1
allele frequency: 8.7631666579035e-6
allele num: 114114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9127C>T
  hgvsp: ENST00000356346.3:c.9127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9580C>T
  hgvsp: ENST00000322810.4:c.9580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9238C>T
  hgvsp: ENST00000527096.1:c.9238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9250C>T
  hgvsp: ENST00000436759.2:c.9250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9181C>T
  hgvsp: ENST00000357649.2:c.9181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9103C>T
  hgvsp: ENST00000354958.2:c.9103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9169C>T
  hgvsp: ENST00000345136.3:c.9169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9169C>T
  hgvsp: ENST00000354589.3:c.9169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9073C>T
  hgvsp: ENST00000398774.2:c.9073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu3194Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-144994822-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994822
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994822
    reference: chr 8
allele count: 4
allele frequency: 3.505512418277742e-5
allele num: 114106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9236C>A
  hgvsp: ENSP00000434583.1:p.Ala3079Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9125C>A
  hgvsp: ENSP00000348702.3:p.Ala3042Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9101C>A
  hgvsp: ENSP00000347044.2:p.Ala3034Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9578C>A
  hgvsp: ENSP00000323856.4:p.Ala3193Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9071C>A
  hgvsp: ENSP00000381756.2:p.Ala3024Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9167C>A
  hgvsp: ENSP00000344848.3:p.Ala3056Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9248C>A
  hgvsp: ENSP00000388180.2:p.Ala3083Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9179C>A
  hgvsp: ENSP00000350277.2:p.Ala3060Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9167C>A
  hgvsp: ENSP00000346602.3:p.Ala3056Asp
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala3193Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

8-144994827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994827
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994827
    reference: chr 8
allele count: 1
allele frequency: 8.760709967935801e-6
allele num: 114146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9162C>T
  hgvsp: ENST00000345136.3:c.9162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9096C>T
  hgvsp: ENST00000354958.2:c.9096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9120C>T
  hgvsp: ENST00000356346.3:c.9120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9162C>T
  hgvsp: ENST00000354589.3:c.9162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9174C>T
  hgvsp: ENST00000357649.2:c.9174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9231C>T
  hgvsp: ENST00000527096.1:c.9231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9243C>T
  hgvsp: ENST00000436759.2:c.9243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9573C>T
  hgvsp: ENST00000322810.4:c.9573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9066C>T
  hgvsp: ENST00000398774.2:c.9066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala3191Ala
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: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144994831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994831
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994831
    reference: chr 8
allele count: 1
allele frequency: 8.754880846071685e-6
allele num: 114222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9227T>C
  hgvsp: ENSP00000434583.1:p.Met3076Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9158T>C
  hgvsp: ENSP00000344848.3:p.Met3053Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9092T>C
  hgvsp: ENSP00000347044.2:p.Met3031Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9239T>C
  hgvsp: ENSP00000388180.2:p.Met3080Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9158T>C
  hgvsp: ENSP00000346602.3:p.Met3053Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9569T>C
  hgvsp: ENSP00000323856.4:p.Met3190Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9116T>C
  hgvsp: ENSP00000348702.3:p.Met3039Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9062T>C
  hgvsp: ENSP00000381756.2:p.Met3021Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9170T>C
  hgvsp: ENSP00000350277.2:p.Met3057Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met3190Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

8-144994832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994832
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994832
    reference: chr 8
allele count: 1
allele frequency: 8.753654650816716e-6
allele num: 114238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9238A>G
  hgvsp: ENSP00000388180.2:p.Met3080Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9169A>G
  hgvsp: ENSP00000350277.2:p.Met3057Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9568A>G
  hgvsp: ENSP00000323856.4:p.Met3190Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9115A>G
  hgvsp: ENSP00000348702.3:p.Met3039Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9226A>G
  hgvsp: ENSP00000434583.1:p.Met3076Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9091A>G
  hgvsp: ENSP00000347044.2:p.Met3031Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9157A>G
  hgvsp: ENSP00000346602.3:p.Met3053Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9061A>G
  hgvsp: ENSP00000381756.2:p.Met3021Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9157A>G
  hgvsp: ENSP00000344848.3:p.Met3053Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43588
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met3190Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-144994835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994835
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994835
    reference: chr 8
allele count: 4
allele frequency: 3.500726400728151e-5
allele num: 114262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9112G>A
  hgvsp: ENSP00000348702.3:p.Asp3038Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9565G>A
  hgvsp: ENSP00000323856.4:p.Asp3189Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9166G>A
  hgvsp: ENSP00000350277.2:p.Asp3056Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9058G>A
  hgvsp: ENSP00000381756.2:p.Asp3020Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9088G>A
  hgvsp: ENSP00000347044.2:p.Asp3030Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9154G>A
  hgvsp: ENSP00000346602.3:p.Asp3052Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9154G>A
  hgvsp: ENSP00000344848.3:p.Asp3052Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9223G>A
  hgvsp: ENSP00000434583.1:p.Asp3075Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9235G>A
  hgvsp: ENSP00000388180.2:p.Asp3079Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp3189Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-144994836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994836
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994836
    reference: chr 8
allele count: 14
allele frequency: 1.224911193938439e-4
allele num: 114294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9057C>T
  hgvsp: ENST00000398774.2:c.9057C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9165C>T
  hgvsp: ENST00000357649.2:c.9165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9153C>T
  hgvsp: ENST00000345136.3:c.9153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9087C>T
  hgvsp: ENST00000354958.2:c.9087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9111C>T
  hgvsp: ENST00000356346.3:c.9111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9234C>T
  hgvsp: ENST00000436759.2:c.9234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9153C>T
  hgvsp: ENST00000354589.3:c.9153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9222C>T
  hgvsp: ENST00000527096.1:c.9222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9564C>T
  hgvsp: ENST00000322810.4:c.9564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser3188Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS

8-144994839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994839
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994839
    reference: chr 8
allele count: 6
allele frequency: 5.249435685663791e-5
allele num: 114298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9162A>G
  hgvsp: ENST00000357649.2:c.9162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9054A>G
  hgvsp: ENST00000398774.2:c.9054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9231A>G
  hgvsp: ENST00000436759.2:c.9231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9561A>G
  hgvsp: ENST00000322810.4:c.9561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9150A>G
  hgvsp: ENST00000345136.3:c.9150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9084A>G
  hgvsp: ENST00000354958.2:c.9084A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9108A>G
  hgvsp: ENST00000356346.3:c.9108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9150A>G
  hgvsp: ENST00000354589.3:c.9150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9219A>G
  hgvsp: ENST00000527096.1:c.9219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6867
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro3187Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144994841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994841
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994841
    reference: chr 8
allele count: 1
allele frequency: 8.747222756774724e-6
allele num: 114322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9148C>T
  hgvsp: ENSP00000344848.3:p.Pro3050Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9106C>T
  hgvsp: ENSP00000348702.3:p.Pro3036Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9052C>T
  hgvsp: ENSP00000381756.2:p.Pro3018Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9082C>T
  hgvsp: ENSP00000347044.2:p.Pro3028Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9229C>T
  hgvsp: ENSP00000388180.2:p.Pro3077Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9148C>T
  hgvsp: ENSP00000346602.3:p.Pro3050Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9160C>T
  hgvsp: ENSP00000350277.2:p.Pro3054Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9217C>T
  hgvsp: ENSP00000434583.1:p.Pro3073Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9559C>T
  hgvsp: ENSP00000323856.4:p.Pro3187Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6868
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro3187Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-144994847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994847
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994847
    reference: chr 8
allele count: 1
allele frequency: 8.744774996939329e-6
allele num: 114354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9211C>T
  hgvsp: ENST00000527096.1:c.9211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9076C>T
  hgvsp: ENST00000354958.2:c.9076C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9142C>T
  hgvsp: ENST00000345136.3:c.9142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9100C>T
  hgvsp: ENST00000356346.3:c.9100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9154C>T
  hgvsp: ENST00000357649.2:c.9154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9553C>T
  hgvsp: ENST00000322810.4:c.9553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9046C>T
  hgvsp: ENST00000398774.2:c.9046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9142C>T
  hgvsp: ENST00000354589.3:c.9142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9223C>T
  hgvsp: ENST00000436759.2:c.9223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu3185Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-144994857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994857
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994857
    reference: chr 8
allele count: 1
allele frequency: 8.738967054094206e-6
allele num: 114430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9144G>A
  hgvsp: ENST00000357649.2:c.9144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9132G>A
  hgvsp: ENST00000345136.3:c.9132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9201G>A
  hgvsp: ENST00000527096.1:c.9201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9066G>A
  hgvsp: ENST00000354958.2:c.9066G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9090G>A
  hgvsp: ENST00000356346.3:c.9090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9543G>A
  hgvsp: ENST00000322810.4:c.9543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9213G>A
  hgvsp: ENST00000436759.2:c.9213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9036G>A
  hgvsp: ENST00000398774.2:c.9036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9132G>A
  hgvsp: ENST00000354589.3:c.9132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu3181Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

8-144994859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994859
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994859
    reference: chr 8
allele count: 1
allele frequency: 8.739119795854162e-6
allele num: 114428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9199C>T
  hgvsp: ENST00000527096.1:c.9199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9211C>T
  hgvsp: ENST00000436759.2:c.9211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9130C>T
  hgvsp: ENST00000354589.3:c.9130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9064C>T
  hgvsp: ENST00000354958.2:c.9064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9088C>T
  hgvsp: ENST00000356346.3:c.9088C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9142C>T
  hgvsp: ENST00000357649.2:c.9142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9130C>T
  hgvsp: ENST00000345136.3:c.9130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9541C>T
  hgvsp: ENST00000322810.4:c.9541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9034C>T
  hgvsp: ENST00000398774.2:c.9034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu3181Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-144994860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994860
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994860
    reference: chr 8
allele count: 2
allele frequency: 1.747762863534676e-5
allele num: 114432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9129C>T
  hgvsp: ENST00000345136.3:c.9129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9141C>T
  hgvsp: ENST00000357649.2:c.9141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9033C>T
  hgvsp: ENST00000398774.2:c.9033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9198C>T
  hgvsp: ENST00000527096.1:c.9198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9210C>T
  hgvsp: ENST00000436759.2:c.9210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9129C>T
  hgvsp: ENST00000354589.3:c.9129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9063C>T
  hgvsp: ENST00000354958.2:c.9063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9087C>T
  hgvsp: ENST00000356346.3:c.9087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9540C>T
  hgvsp: ENST00000322810.4:c.9540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala3180Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

8-144994861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994861
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994861
    reference: chr 8
allele count: 5
allele frequency: 4.37024735600035e-5
allele num: 114410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9539C>T
  hgvsp: ENSP00000323856.4:p.Ala3180Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9140C>T
  hgvsp: ENSP00000350277.2:p.Ala3047Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9197C>T
  hgvsp: ENSP00000434583.1:p.Ala3066Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9128C>T
  hgvsp: ENSP00000344848.3:p.Ala3043Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9086C>T
  hgvsp: ENSP00000348702.3:p.Ala3029Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9062C>T
  hgvsp: ENSP00000347044.2:p.Ala3021Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9032C>T
  hgvsp: ENSP00000381756.2:p.Ala3011Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9128C>T
  hgvsp: ENSP00000346602.3:p.Ala3043Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9209C>T
  hgvsp: ENSP00000388180.2:p.Ala3070Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala3180Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-144994862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994862
    reference: chr 8
allele count: 2
allele frequency: 1.747396379394702e-5
allele num: 114456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9127G>A
  hgvsp: ENSP00000344848.3:p.Ala3043Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9538G>A
  hgvsp: ENSP00000323856.4:p.Ala3180Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9208G>A
  hgvsp: ENSP00000388180.2:p.Ala3070Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9061G>A
  hgvsp: ENSP00000347044.2:p.Ala3021Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9085G>A
  hgvsp: ENSP00000348702.3:p.Ala3029Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9196G>A
  hgvsp: ENSP00000434583.1:p.Ala3066Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9139G>A
  hgvsp: ENSP00000350277.2:p.Ala3047Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9031G>A
  hgvsp: ENSP00000381756.2:p.Ala3011Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9127G>A
  hgvsp: ENSP00000346602.3:p.Ala3043Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18639
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala3180Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-144994864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994864
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994864
    reference: chr 8
allele count: 3
allele frequency: 2.620774001921901e-5
allele num: 114470
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9536A>G
  hgvsp: ENSP00000323856.4:p.Asn3179Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9206A>G
  hgvsp: ENSP00000388180.2:p.Asn3069Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9029A>G
  hgvsp: ENSP00000381756.2:p.Asn3010Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9059A>G
  hgvsp: ENSP00000347044.2:p.Asn3020Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9125A>G
  hgvsp: ENSP00000346602.3:p.Asn3042Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9083A>G
  hgvsp: ENSP00000348702.3:p.Asn3028Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9137A>G
  hgvsp: ENSP00000350277.2:p.Asn3046Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9125A>G
  hgvsp: ENSP00000344848.3:p.Asn3042Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9194A>G
  hgvsp: ENSP00000434583.1:p.Asn3065Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn3179Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

8-144994873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994873
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994873
    reference: chr 8
allele count: 12
allele frequency: 1.048694375502499e-4
allele num: 114428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9020G>A
  hgvsp: ENSP00000381756.2:p.Ser3007Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9185G>A
  hgvsp: ENSP00000434583.1:p.Ser3062Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9074G>A
  hgvsp: ENSP00000348702.3:p.Ser3025Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9128G>A
  hgvsp: ENSP00000350277.2:p.Ser3043Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9197G>A
  hgvsp: ENSP00000388180.2:p.Ser3066Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9050G>A
  hgvsp: ENSP00000347044.2:p.Ser3017Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9116G>A
  hgvsp: ENSP00000344848.3:p.Ser3039Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9116G>A
  hgvsp: ENSP00000346602.3:p.Ser3039Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9527G>A
  hgvsp: ENSP00000323856.4:p.Ser3176Asn
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser3176Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

8-144994875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994875
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994875
    reference: chr 8
allele count: 1
allele frequency: 8.739425295392576e-6
allele num: 114424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9126G>A
  hgvsp: ENST00000357649.2:c.9126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9114G>A
  hgvsp: ENST00000345136.3:c.9114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9048G>A
  hgvsp: ENST00000354958.2:c.9048G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9114G>A
  hgvsp: ENST00000354589.3:c.9114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9018G>A
  hgvsp: ENST00000398774.2:c.9018G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9072G>A
  hgvsp: ENST00000356346.3:c.9072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9525G>A
  hgvsp: ENST00000322810.4:c.9525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9195G>A
  hgvsp: ENST00000436759.2:c.9195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9183G>A
  hgvsp: ENST00000527096.1:c.9183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu3175Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

8-144994877-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994877
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994877
    reference: chr 8
allele count: 10
allele frequency: 8.738508860847985e-5
allele num: 114436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9046C>G
  hgvsp: ENSP00000347044.2:p.Leu3016Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9016C>G
  hgvsp: ENSP00000381756.2:p.Leu3006Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9112C>G
  hgvsp: ENSP00000346602.3:p.Leu3038Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9181C>G
  hgvsp: ENSP00000434583.1:p.Leu3061Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9523C>G
  hgvsp: ENSP00000323856.4:p.Leu3175Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9112C>G
  hgvsp: ENSP00000344848.3:p.Leu3038Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9193C>G
  hgvsp: ENSP00000388180.2:p.Leu3065Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9070C>G
  hgvsp: ENSP00000348702.3:p.Leu3024Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9124C>G
  hgvsp: ENSP00000350277.2:p.Leu3042Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu3175Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-144994881-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994881
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994881
    reference: chr 8
allele count: 3
allele frequency: 2.621277785544527e-5
allele num: 114448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9177G>T
  hgvsp: ENSP00000434583.1:p.Gln3059His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9108G>T
  hgvsp: ENSP00000344848.3:p.Gln3036His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9066G>T
  hgvsp: ENSP00000348702.3:p.Gln3022His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9120G>T
  hgvsp: ENSP00000350277.2:p.Gln3040His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9012G>T
  hgvsp: ENSP00000381756.2:p.Gln3004His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9042G>T
  hgvsp: ENSP00000347044.2:p.Gln3014His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9519G>T
  hgvsp: ENSP00000323856.4:p.Gln3173His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9108G>T
  hgvsp: ENSP00000346602.3:p.Gln3036His
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9189G>T
  hgvsp: ENSP00000388180.2:p.Gln3063His
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln3173His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

8-144994885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994885
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994885
    reference: chr 8
allele count: 2
allele frequency: 1.747487986020096e-5
allele num: 114450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9515G>A
  hgvsp: ENSP00000323856.4:p.Gly3172Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9104G>A
  hgvsp: ENSP00000346602.3:p.Gly3035Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9185G>A
  hgvsp: ENSP00000388180.2:p.Gly3062Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9104G>A
  hgvsp: ENSP00000344848.3:p.Gly3035Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9008G>A
  hgvsp: ENSP00000381756.2:p.Gly3003Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9116G>A
  hgvsp: ENSP00000350277.2:p.Gly3039Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9038G>A
  hgvsp: ENSP00000347044.2:p.Gly3013Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9173G>A
  hgvsp: ENSP00000434583.1:p.Gly3058Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9062G>A
  hgvsp: ENSP00000348702.3:p.Gly3021Glu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly3172Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

8-144994886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994886
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994886
    reference: chr 8
allele count: 1
allele frequency: 8.736981896973509e-6
allele num: 114456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9037G>A
  hgvsp: ENSP00000347044.2:p.Gly3013Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9103G>A
  hgvsp: ENSP00000346602.3:p.Gly3035Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9103G>A
  hgvsp: ENSP00000344848.3:p.Gly3035Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9115G>A
  hgvsp: ENSP00000350277.2:p.Gly3039Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9184G>A
  hgvsp: ENSP00000388180.2:p.Gly3062Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9172G>A
  hgvsp: ENSP00000434583.1:p.Gly3058Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9061G>A
  hgvsp: ENSP00000348702.3:p.Gly3021Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9514G>A
  hgvsp: ENSP00000323856.4:p.Gly3172Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9007G>A
  hgvsp: ENSP00000381756.2:p.Gly3003Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly3172Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-144994887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994887
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994887
    reference: chr 8
allele count: 1
allele frequency: 8.735455466648032e-6
allele num: 114476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9036G>A
  hgvsp: ENST00000354958.2:c.9036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9006G>A
  hgvsp: ENST00000398774.2:c.9006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9060G>A
  hgvsp: ENST00000356346.3:c.9060G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9102G>A
  hgvsp: ENST00000345136.3:c.9102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9114G>A
  hgvsp: ENST00000357649.2:c.9114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9171G>A
  hgvsp: ENST00000527096.1:c.9171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9513G>A
  hgvsp: ENST00000322810.4:c.9513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9102G>A
  hgvsp: ENST00000354589.3:c.9102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9183G>A
  hgvsp: ENST00000436759.2:c.9183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala3171Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-144994888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994888
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994888
    reference: chr 8
allele count: 6510
allele frequency: 5.68499371244935e-2
allele num: 114512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9182C>T
  hgvsp: ENSP00000388180.2:p.Ala3061Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9101C>T
  hgvsp: ENSP00000346602.3:p.Ala3034Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9512C>T
  hgvsp: ENSP00000323856.4:p.Ala3171Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9035C>T
  hgvsp: ENSP00000347044.2:p.Ala3012Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9059C>T
  hgvsp: ENSP00000348702.3:p.Ala3020Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9101C>T
  hgvsp: ENSP00000344848.3:p.Ala3034Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9170C>T
  hgvsp: ENSP00000434583.1:p.Ala3057Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.9005C>T
  hgvsp: ENSP00000381756.2:p.Ala3002Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9113C>T
  hgvsp: ENSP00000350277.2:p.Ala3038Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.75e1
  variant carriers: 447
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 29009
  bin: 2.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 16933
  bin: 2.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 355
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 9.75e1
  variant carriers: 1283
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 504
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 9.75e1
  variant carriers: 6192
hgvs: p.Ala3171Val
num of homozygotes: 267
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144994896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994896
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994896
    reference: chr 8
allele count: 4
allele frequency: 3.491620111731843e-5
allele num: 114560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9162G>A
  hgvsp: ENST00000527096.1:c.9162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9174G>A
  hgvsp: ENST00000436759.2:c.9174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9504G>A
  hgvsp: ENST00000322810.4:c.9504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9027G>A
  hgvsp: ENST00000354958.2:c.9027G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8997G>A
  hgvsp: ENST00000398774.2:c.8997G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9093G>A
  hgvsp: ENST00000354589.3:c.9093G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9093G>A
  hgvsp: ENST00000345136.3:c.9093G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9105G>A
  hgvsp: ENST00000357649.2:c.9105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9051G>A
  hgvsp: ENST00000356346.3:c.9051G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu3168Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-144994898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994898
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994898
    reference: chr 8
allele count: 1
allele frequency: 8.729050279329608e-6
allele num: 114560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9160C>T
  hgvsp: ENST00000527096.1:c.9160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9502C>T
  hgvsp: ENST00000322810.4:c.9502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9091C>T
  hgvsp: ENST00000345136.3:c.9091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8995C>T
  hgvsp: ENST00000398774.2:c.8995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9025C>T
  hgvsp: ENST00000354958.2:c.9025C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9172C>T
  hgvsp: ENST00000436759.2:c.9172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9103C>T
  hgvsp: ENST00000357649.2:c.9103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9091C>T
  hgvsp: ENST00000354589.3:c.9091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9049C>T
  hgvsp: ENST00000356346.3:c.9049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu3168Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-144994901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994901
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994901
    reference: chr 8
allele count: 1
allele frequency: 8.728136019271725e-6
allele num: 114572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9169T>C
  hgvsp: ENSP00000388180.2:p.Trp3057Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9046T>C
  hgvsp: ENSP00000348702.3:p.Trp3016Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9088T>C
  hgvsp: ENSP00000344848.3:p.Trp3030Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9100T>C
  hgvsp: ENSP00000350277.2:p.Trp3034Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9157T>C
  hgvsp: ENSP00000434583.1:p.Trp3053Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9022T>C
  hgvsp: ENSP00000347044.2:p.Trp3008Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8992T>C
  hgvsp: ENSP00000381756.2:p.Trp2998Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9088T>C
  hgvsp: ENSP00000346602.3:p.Trp3030Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9499T>C
  hgvsp: ENSP00000323856.4:p.Trp3167Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp3167Arg
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: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

8-144994902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994902
    reference: chr 8
allele count: 1
allele frequency: 8.729355075247041e-6
allele num: 114556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8991A>G
  hgvsp: ENST00000398774.2:c.8991A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9087A>G
  hgvsp: ENST00000345136.3:c.9087A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9498A>G
  hgvsp: ENST00000322810.4:c.9498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9099A>G
  hgvsp: ENST00000357649.2:c.9099A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9021A>G
  hgvsp: ENST00000354958.2:c.9021A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9168A>G
  hgvsp: ENST00000436759.2:c.9168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9156A>G
  hgvsp: ENST00000527096.1:c.9156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9087A>G
  hgvsp: ENST00000354589.3:c.9087A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9045A>G
  hgvsp: ENST00000356346.3:c.9045A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val3166Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/8-144994904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994904
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994904
    reference: chr 8
allele count: 1
allele frequency: 8.727983661214587e-6
allele num: 114574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9154G>T
  hgvsp: ENSP00000434583.1:p.Val3052Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9019G>T
  hgvsp: ENSP00000347044.2:p.Val3007Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9085G>T
  hgvsp: ENSP00000346602.3:p.Val3029Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8989G>T
  hgvsp: ENSP00000381756.2:p.Val2997Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9097G>T
  hgvsp: ENSP00000350277.2:p.Val3033Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9043G>T
  hgvsp: ENSP00000348702.3:p.Val3015Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9085G>T
  hgvsp: ENSP00000344848.3:p.Val3029Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9166G>T
  hgvsp: ENSP00000388180.2:p.Val3056Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9496G>T
  hgvsp: ENSP00000323856.4:p.Val3166Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val3166Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-144994904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994904
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994904
    reference: chr 8
allele count: 1
allele frequency: 8.727983661214587e-6
allele num: 114574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9097G>A
  hgvsp: ENSP00000350277.2:p.Val3033Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8989G>A
  hgvsp: ENSP00000381756.2:p.Val2997Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9085G>A
  hgvsp: ENSP00000344848.3:p.Val3029Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9043G>A
  hgvsp: ENSP00000348702.3:p.Val3015Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9019G>A
  hgvsp: ENSP00000347044.2:p.Val3007Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9496G>A
  hgvsp: ENSP00000323856.4:p.Val3166Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9166G>A
  hgvsp: ENSP00000388180.2:p.Val3056Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9085G>A
  hgvsp: ENSP00000346602.3:p.Val3029Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9154G>A
  hgvsp: ENSP00000434583.1:p.Val3052Ile
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val3166Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-144994908-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144994908
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144994908
    reference: chr 8
allele count: 6
allele frequency: 5.237978838565492e-5
allele num: 114548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.9093G>T
  hgvsp: ENST00000357649.2:c.9093G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.9081G>T
  hgvsp: ENST00000354589.3:c.9081G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.9081G>T
  hgvsp: ENST00000345136.3:c.9081G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.9492G>T
  hgvsp: ENST00000322810.4:c.9492G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.9162G>T
  hgvsp: ENST00000436759.2:c.9162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.8985G>T
  hgvsp: ENST00000398774.2:c.8985G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.9015G>T
  hgvsp: ENST00000354958.2:c.9015G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.9150G>T
  hgvsp: ENST00000527096.1:c.9150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.9039G>T
  hgvsp: ENST00000356346.3:c.9039G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala3164Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.765535646206634e-5
allele num: 62952
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

Latino
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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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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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DP
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ClippingRankSum
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SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

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

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

European (Non-Finnish)
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allele frequency: 1.587150430117766e-5
allele num: 63006
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

Latino
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: -1.848e0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.268472125325046e-4
allele num: 63068
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.463e0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
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VQSLOD
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FS
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QD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.406276e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.754659566375048e-5
allele num: 63096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 8.6e0

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.406327e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.58363158394831e-5
allele num: 63146
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6294
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Other
type: Population
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allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.063e0

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

FS
type: SiteQuality
SIO_000300: 4.487e0

DP
type: SiteQuality
SIO_000300: 1.407809e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63098
num of homozygotes: 0

South Asian
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allele num: 16352
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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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Latino
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Other
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.5e-3

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

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

African
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allele frequency: 1.147842056932966e-4
allele num: 8712
num of homozygotes: 0

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

East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.167564143173899e-5
allele num: 63140
num of homozygotes: 0

DP
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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African
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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DP
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VQSLOD
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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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African
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num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191895113230036e-4
allele num: 8390
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 6.368e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.406721e6

QD
type: SiteQuality
SIO_000300: 1.077e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.940793444080932e-5
allele num: 62966
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.392129304286718e-4
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.407351e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 43103
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.407351e6

GenotypeQuality
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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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GenotypeQuality
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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: 111
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.175712153450411e-5
allele num: 62978
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.407007e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 1.198e0

QD
type: SiteQuality
SIO_000300: 1.032e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeQuality
all individuals: 43072
bin: 6.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589067217543302e-5
allele num: 62930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 1.606e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.406477e6

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

GenotypeQuality
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bin: 6.75e1
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: 139
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variant carriers: 1

African
type: Population
allele count: 9
allele frequency: 1.045053413841152e-3
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757778168395148e-4
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.405694e6

QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

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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variant carriers: 4

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.363144666093983e-5
allele num: 62862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.406056e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.180661577608142e-5
allele num: 62880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.646840148698885e-4
allele num: 8608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.406444e6

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 42805
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GenotypeQuality
all individuals: 243
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593168493499873e-5
allele num: 62768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.404139e6

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.811e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9.25e1
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GenotypeQuality
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bin: 4.75e1
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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: 42815
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759014951627089e-4
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.785833931562575e-4
allele num: 8358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 2.481e0

DP
type: SiteQuality
SIO_000300: 1.404478e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.789272030651341e-5
allele num: 62640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 3.576e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.402726e6

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

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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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.796163069544365e-4
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.793404275716614e-5
allele num: 62586
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

DP
type: SiteQuality
SIO_000300: 1.401798e6

QD
type: SiteQuality
SIO_000300: 1.319e1

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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variant carriers: 0

GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.990028444501262e-5
allele num: 62578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.199e1

DP
type: SiteQuality
SIO_000300: 1.400637e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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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: 294
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.798992564164068e-3
allele num: 8338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.401386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 2.422e0

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 293
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.836434867776689e-4
allele num: 16336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 2.958e0

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 1.400737e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

East Asian
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allele frequency: 1.199616122840691e-4
allele num: 8336
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.642e0

FS
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.62e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.399763e6

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: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601024655779699e-5
allele num: 62460
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.398836e6

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.66e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.402663508019336e-5
allele num: 62474
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.36854571293226e-4
allele num: 8444
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Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16326
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQRankSum
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SIO_000300: -3.99e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62436
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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FS
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QD
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62426
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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East Asian
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South Asian
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DP
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62334
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Latino
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allele count: 1
allele frequency: 8.815232722143864e-5
allele num: 11344
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South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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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 (Non-Finnish)
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allele count: 1
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allele num: 62334
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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European (Finnish)
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QD
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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Latino
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 170
bin: 4.75e1
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GenotypeQuality
all individuals: 42486
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variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605600333964869e-5
allele num: 62282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.815232722143864e-5
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.402013e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.438e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42505
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GenotypeQuality
all individuals: 279
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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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
all individuals: 1878
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variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.291845493562232e-4
allele num: 16310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605291039265419e-5
allele num: 62294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

DP
type: SiteQuality
SIO_000300: 1.401886e6

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 227
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GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 4
allele frequency: 4.81000481000481e-4
allele num: 8316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.135722174499939e-5
allele num: 16298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.40365e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 4.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
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GenotypeQuality
all individuals: 340
bin: 9.75e1
variant carriers: 65

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 298
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GenotypeQuality
all individuals: 229
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42756
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variant carriers: 0

GenotypeQuality
all individuals: 6708
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.630818619582665e-5
allele num: 62300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.008032128514056e-3
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 29
allele frequency: 2.556868277199788e-3
allele num: 11342
num of homozygotes: 1

South Asian
type: Population
allele count: 9
allele frequency: 5.523505584877869e-4
allele num: 16294
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.199424046076314e-4
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.103e0

DP
type: SiteQuality
SIO_000300: 1.406585e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 1.401e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 6748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
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GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 1543
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GenotypeQuality
all individuals: 42992
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 2105
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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 3

GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 931
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 233
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GenotypeQuality
all individuals: 1890
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.811547714514835e-5
allele num: 62350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

FS
type: SiteQuality
SIO_000300: 5.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.407199e6

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 1913
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GenotypeQuality
all individuals: 6804
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 1589
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GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 2120
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GenotypeQuality
all individuals: 309
bin: 8.75e1
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GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601742696053306e-5
allele num: 62432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.128e1

MQRankSum
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 3.289e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.229e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.41218e6

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 1594
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GenotypeQuality
all individuals: 1912
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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: 6805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601281024819856e-5
allele num: 62450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.717e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.412557e6

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 43367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 2123
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GenotypeQuality
all individuals: 1917
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 6820
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GenotypeQuality
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GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 296
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variant carriers: 5

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.801920768307323e-4
allele num: 8330
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.412927e6

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 2.25e1
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GenotypeQuality
all individuals: 43428
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 175
bin: 1.75e1
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GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
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GenotypeQuality
all individuals: 45
bin: 4.25e1
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GenotypeQuality
all individuals: 1923
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 53
bin: 4.75e1
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GenotypeQuality
all individuals: 2129
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GenotypeQuality
all individuals: 941
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GenotypeQuality
all individuals: 293
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62450
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 1.263e0

DP
type: SiteQuality
SIO_000300: 1.414756e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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bin: 7.5e0
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.415737e6

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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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bin: 2.25e1
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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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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: 2.5e0
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GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599744040953447e-5
allele num: 62510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.577e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.416025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.921e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.496e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.197318007662835e-4
allele num: 8352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.146281499692685e-5
allele num: 16270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.198771671678076e-5
allele num: 62524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 1.41713e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.113e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 1929
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.75836823427859e-4
allele num: 62558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.591954022988506e-4
allele num: 8352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.41801e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
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variant carriers: 0

GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 2141
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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: 0

GenotypeQuality
all individuals: 1936
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GenotypeQuality
all individuals: 308
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.270555165144061e-4
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 1.417982e6

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

GenotypeQuality
all individuals: 43630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199328376109379e-4
allele num: 8338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.18e-1

QD
type: SiteQuality
SIO_000300: 8.32e0

DP
type: SiteQuality
SIO_000300: 1.418181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 125
bin: 1.75e1
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GenotypeQuality
all individuals: 161
bin: 2.75e1
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GenotypeQuality
all individuals: 1930
bin: 7.75e1
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GenotypeQuality
all individuals: 304
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597342022873938e-5
allele num: 62604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.602e1

FS
type: SiteQuality
SIO_000300: 1.403e0

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
type: SiteQuality
SIO_000300: 1.418925e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2152
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GenotypeQuality
all individuals: 1932
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 144
bin: 3.25e1
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GenotypeQuality
all individuals: 1354
bin: 2.25e1
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 6897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43656
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.596067290196955e-5
allele num: 62654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.419797e6

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
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Latino
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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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South Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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MQ
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SIO_000300: 5.936e1

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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East Asian
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African
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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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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.596169193934557e-5
allele num: 62650
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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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
allele num: 6572
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South 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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.983139609145484e-5
allele num: 62632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -9.3e-2

ClippingRankSum
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.8e-3

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

South Asian
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allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

European (Finnish)
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allele 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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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.191625175539385e-5
allele num: 62664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.849e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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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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Other
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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Other
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South Asian
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African
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European (Non-Finnish)
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DP
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MQRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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East Asian
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.420691e6

GenotypeQuality
all individuals: 1923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6875
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.847063169560399e-4
allele num: 16242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.203e0

DP
type: SiteQuality
SIO_000300: 1.419102e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231223836493475e-4
allele num: 16244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.193e0

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.39e-2

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 4.155e0

DP
type: SiteQuality
SIO_000300: 1.420265e6

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 326
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59550705214117e-5
allele num: 62676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.169e0

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

DP
type: SiteQuality
SIO_000300: 1.420307e6

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 2.945e1

GenotypeQuality
all individuals: 2155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595405232929164e-5
allele num: 62680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.420579e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1421
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 6009
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 292
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1525
bin: 7.75e1
variant carriers: 14

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 720
bin: 8.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1757
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 39316
bin: 6.25e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 469
allele frequency: 7.134164891998783e-2
allele num: 6574
num of homozygotes: 14

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

African
type: Population
allele count: 106
allele frequency: 1.268245991864082e-2
allele num: 8358
num of homozygotes: 0

Latino
type: Population
allele count: 471
allele frequency: 4.138112809699526e-2
allele num: 11382
num of homozygotes: 6

South Asian
type: Population
allele count: 184
allele frequency: 1.132865410663711e-2
allele num: 16242
num of homozygotes: 4

Other
type: Population
allele count: 55
allele frequency: 6.455399061032864e-2
allele num: 852
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 5225
allele frequency: 8.330144761175945e-2
allele num: 62724
num of homozygotes: 237

FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 1.254e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

DP
type: SiteQuality
SIO_000300: 1.755666e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

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

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7050
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1349
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.377551020408164e-5
allele num: 62720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.48876e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 7049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594387755102041e-5
allele num: 62720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 5.491e0

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.48867e6

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.543e1

DP
type: SiteQuality
SIO_000300: 1.48826e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 1346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7053
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62710
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.190759704691593e-4
allele num: 8398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
type: SiteQuality
SIO_000300: 1.488263e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7053
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594286078693961e-5
allele num: 62724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.488247e6

MQ
type: SiteQuality
SIO_000300: 5.902e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594286078693961e-5
allele num: 62724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.488247e6

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1