http://identifiers.org/exac.variant/8-144997476-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997476
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997476
    reference: chr 8
allele count: 1
allele frequency: 9.32001192961527e-6
allele num: 107296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6525G>T
  hgvsp: ENSP00000381756.2:p.Glu2175Asp
  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.6555G>T
  hgvsp: ENSP00000347044.2:p.Glu2185Asp
  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.6621G>T
  hgvsp: ENSP00000346602.3:p.Glu2207Asp
  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.6633G>T
  hgvsp: ENSP00000350277.2:p.Glu2211Asp
  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.6690G>T
  hgvsp: ENSP00000434583.1:p.Glu2230Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-913G>T
  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.7032G>T
  hgvsp: ENSP00000323856.4:p.Glu2344Asp
  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.6702G>T
  hgvsp: ENSP00000388180.2:p.Glu2234Asp
  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.6579G>T
  hgvsp: ENSP00000348702.3:p.Glu2193Asp
  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.6621G>T
  hgvsp: ENSP00000344848.3:p.Glu2207Asp
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu2344Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

8-144997478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997478
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997478
    reference: chr 8
allele count: 1
allele frequency: 9.351387745941497e-6
allele num: 106936
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.6619G>A
  hgvsp: ENSP00000344848.3:p.Glu2207Lys
  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.6553G>A
  hgvsp: ENSP00000347044.2:p.Glu2185Lys
  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.6631G>A
  hgvsp: ENSP00000350277.2:p.Glu2211Lys
  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.6577G>A
  hgvsp: ENSP00000348702.3:p.Glu2193Lys
  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.6700G>A
  hgvsp: ENSP00000388180.2:p.Glu2234Lys
  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.6688G>A
  hgvsp: ENSP00000434583.1:p.Glu2230Lys
  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.7030G>A
  hgvsp: ENSP00000323856.4:p.Glu2344Lys
  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.6523G>A
  hgvsp: ENSP00000381756.2:p.Glu2175Lys
  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.6619G>A
  hgvsp: ENSP00000346602.3:p.Glu2207Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-915G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu2344Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

8-144997479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997479
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997479
    reference: chr 8
allele count: 5
allele frequency: 4.683752997601918e-5
allele num: 106752
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.6576C>T
  hgvsp: ENST00000356346.3:c.6576C>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.7029C>T
  hgvsp: ENST00000322810.4:c.7029C>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.6618C>T
  hgvsp: ENST00000345136.3:c.6618C>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.6699C>T
  hgvsp: ENST00000436759.2:c.6699C>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.6687C>T
  hgvsp: ENST00000527096.1:c.6687C>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.6630C>T
  hgvsp: ENST00000357649.2:c.6630C>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.6552C>T
  hgvsp: ENST00000354958.2:c.6552C>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.6522C>T
  hgvsp: ENST00000398774.2:c.6522C>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.6618C>T
  hgvsp: ENST00000354589.3:c.6618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-916C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2343Asp
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-144997479-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997479
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997479
    reference: chr 8
allele count: 1
allele frequency: 9.367505995203836e-6
allele num: 106752
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.6552C>A
  hgvsp: ENSP00000347044.2:p.Asp2184Glu
  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.6699C>A
  hgvsp: ENSP00000388180.2:p.Asp2233Glu
  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.6618C>A
  hgvsp: ENSP00000344848.3:p.Asp2206Glu
  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.6687C>A
  hgvsp: ENSP00000434583.1:p.Asp2229Glu
  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.7029C>A
  hgvsp: ENSP00000323856.4:p.Asp2343Glu
  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.6630C>A
  hgvsp: ENSP00000350277.2:p.Asp2210Glu
  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.6522C>A
  hgvsp: ENSP00000381756.2:p.Asp2174Glu
  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.6576C>A
  hgvsp: ENSP00000348702.3:p.Asp2192Glu
  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.6618C>A
  hgvsp: ENSP00000346602.3:p.Asp2206Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-916C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2343Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-144997482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997482
    reference: chr 8
allele count: 2
allele frequency: 1.873992728908212e-5
allele num: 106724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.7026G>A
  hgvsp: ENST00000322810.4:c.7026G>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.6519G>A
  hgvsp: ENST00000398774.2:c.6519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-919G>A
  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.6615G>A
  hgvsp: ENST00000354589.3:c.6615G>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.6627G>A
  hgvsp: ENST00000357649.2:c.6627G>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.6573G>A
  hgvsp: ENST00000356346.3:c.6573G>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.6684G>A
  hgvsp: ENST00000527096.1:c.6684G>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.6615G>A
  hgvsp: ENST00000345136.3:c.6615G>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.6696G>A
  hgvsp: ENST00000436759.2:c.6696G>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.6549G>A
  hgvsp: ENST00000354958.2:c.6549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2342Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144997487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997487
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997487
    reference: chr 8
allele count: 8
allele frequency: 7.51597143930853e-5
allele num: 106440
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.6679C>T
  hgvsp: ENST00000527096.1:c.6679C>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.6568C>T
  hgvsp: ENST00000356346.3:c.6568C>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.6622C>T
  hgvsp: ENST00000357649.2:c.6622C>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.7021C>T
  hgvsp: ENST00000322810.4:c.7021C>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.6610C>T
  hgvsp: ENST00000354589.3:c.6610C>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.6514C>T
  hgvsp: ENST00000398774.2:c.6514C>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.6544C>T
  hgvsp: ENST00000354958.2:c.6544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-924C>T
  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.6610C>T
  hgvsp: ENST00000345136.3:c.6610C>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.6691C>T
  hgvsp: ENST00000436759.2:c.6691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu2341Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

8-144997491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997491
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997491
    reference: chr 8
allele count: 2
allele frequency: 1.881715371732872e-5
allele num: 106286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6606G>A
  hgvsp: ENST00000345136.3:c.6606G>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.6687G>A
  hgvsp: ENST00000436759.2:c.6687G>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.6606G>A
  hgvsp: ENST00000354589.3:c.6606G>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.6564G>A
  hgvsp: ENST00000356346.3:c.6564G>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.6618G>A
  hgvsp: ENST00000357649.2:c.6618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-928G>A
  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.6540G>A
  hgvsp: ENST00000354958.2:c.6540G>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.6675G>A
  hgvsp: ENST00000527096.1:c.6675G>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.6510G>A
  hgvsp: ENST00000398774.2:c.6510G>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.7017G>A
  hgvsp: ENST00000322810.4:c.7017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24335
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys2339Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

8-144997492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997492
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997492
    reference: chr 8
allele count: 17
allele frequency: 1.599036815471152e-4
allele num: 106314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6605A>G
  hgvsp: ENSP00000344848.3:p.Lys2202Arg
  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.6605A>G
  hgvsp: ENSP00000346602.3:p.Lys2202Arg
  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.6539A>G
  hgvsp: ENSP00000347044.2:p.Lys2180Arg
  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.6509A>G
  hgvsp: ENSP00000381756.2:p.Lys2170Arg
  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.7016A>G
  hgvsp: ENSP00000323856.4:p.Lys2339Arg
  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.6563A>G
  hgvsp: ENSP00000348702.3:p.Lys2188Arg
  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.6674A>G
  hgvsp: ENSP00000434583.1:p.Lys2225Arg
  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.6686A>G
  hgvsp: ENSP00000388180.2:p.Lys2229Arg
  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.6617A>G
  hgvsp: ENSP00000350277.2:p.Lys2206Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-929A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19524
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys2339Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-144997500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997500
    reference: chr 8
allele count: 9
allele frequency: 8.520629390490978e-5
allele num: 105626
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.6666C>T
  hgvsp: ENST00000527096.1:c.6666C>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.6501C>T
  hgvsp: ENST00000398774.2:c.6501C>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.6597C>T
  hgvsp: ENST00000354589.3:c.6597C>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.6597C>T
  hgvsp: ENST00000345136.3:c.6597C>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.7008C>T
  hgvsp: ENST00000322810.4:c.7008C>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.6531C>T
  hgvsp: ENST00000354958.2:c.6531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-937C>T
  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.6555C>T
  hgvsp: ENST00000356346.3:c.6555C>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.6609C>T
  hgvsp: ENST00000357649.2:c.6609C>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.6678C>T
  hgvsp: ENST00000436759.2:c.6678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18978
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2336Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-144997502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997502
    reference: chr 8
allele count: 2
allele frequency: 1.901068400441048e-5
allele num: 105204
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.6553G>A
  hgvsp: ENSP00000348702.3:p.Asp2185Asn
  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.6664G>A
  hgvsp: ENSP00000434583.1:p.Asp2222Asn
  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.6529G>A
  hgvsp: ENSP00000347044.2:p.Asp2177Asn
  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.6607G>A
  hgvsp: ENSP00000350277.2:p.Asp2203Asn
  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.6676G>A
  hgvsp: ENSP00000388180.2:p.Asp2226Asn
  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.6595G>A
  hgvsp: ENSP00000344848.3:p.Asp2199Asn
  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.7006G>A
  hgvsp: ENSP00000323856.4:p.Asp2336Asn
  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.6499G>A
  hgvsp: ENSP00000381756.2:p.Asp2167Asn
  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.6595G>A
  hgvsp: ENSP00000346602.3:p.Asp2199Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-939G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp2336Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-144997503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997503
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997503
    reference: chr 8
allele count: 142
allele frequency: 1.349681589202547e-3
allele num: 105210
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.6498C>T
  hgvsp: ENST00000398774.2:c.6498C>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.6552C>T
  hgvsp: ENST00000356346.3:c.6552C>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.6594C>T
  hgvsp: ENST00000354589.3:c.6594C>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.6594C>T
  hgvsp: ENST00000345136.3:c.6594C>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.6675C>T
  hgvsp: ENST00000436759.2:c.6675C>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.6528C>T
  hgvsp: ENST00000354958.2:c.6528C>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.7005C>T
  hgvsp: ENST00000322810.4:c.7005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-940C>T
  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.6606C>T
  hgvsp: ENST00000357649.2:c.6606C>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.6663C>T
  hgvsp: ENST00000527096.1:c.6663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2335Thr
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

8-144997514-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997514
    reference: chr 8
allele count: 1
allele frequency: 9.542348944616206e-6
allele num: 104796
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.6517C>G
  hgvsp: ENSP00000347044.2:p.Leu2173Val
  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.6583C>G
  hgvsp: ENSP00000344848.3:p.Leu2195Val
  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.6994C>G
  hgvsp: ENSP00000323856.4:p.Leu2332Val
  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.6595C>G
  hgvsp: ENSP00000350277.2:p.Leu2199Val
  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.6487C>G
  hgvsp: ENSP00000381756.2:p.Leu2163Val
  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.6541C>G
  hgvsp: ENSP00000348702.3:p.Leu2181Val
  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.6652C>G
  hgvsp: ENSP00000434583.1:p.Leu2218Val
  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.6583C>G
  hgvsp: ENSP00000346602.3:p.Leu2195Val
  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.6664C>G
  hgvsp: ENSP00000388180.2:p.Leu2222Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-951C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu2332Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-144997520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997520
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997520
    reference: chr 8
allele count: 626
allele frequency: 5.970661732445683e-3
allele num: 104846
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.6511C>T
  hgvsp: ENST00000354958.2:c.6511C>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.6988C>T
  hgvsp: ENST00000322810.4:c.6988C>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.6481C>T
  hgvsp: ENST00000398774.2:c.6481C>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.6646C>T
  hgvsp: ENST00000527096.1:c.6646C>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.6589C>T
  hgvsp: ENST00000357649.2:c.6589C>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.6658C>T
  hgvsp: ENST00000436759.2:c.6658C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-957C>T
  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.6577C>T
  hgvsp: ENST00000354589.3:c.6577C>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.6577C>T
  hgvsp: ENST00000345136.3:c.6577C>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.6535C>T
  hgvsp: ENST00000356346.3:c.6535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 1.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 1.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18656
  bin: 2.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 11239
  bin: 2.25e1
  variant carriers: 3
hgvs: p.Leu2330Leu
num of homozygotes: 7
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

8-144997522-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997522
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997522
    reference: chr 8
allele count: 1
allele frequency: 9.540710210468067e-6
allele num: 104814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6533G>C
  hgvsp: ENSP00000348702.3:p.Arg2178Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-959G>C
  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.6575G>C
  hgvsp: ENSP00000346602.3:p.Arg2192Pro
  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.6575G>C
  hgvsp: ENSP00000344848.3:p.Arg2192Pro
  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.6644G>C
  hgvsp: ENSP00000434583.1:p.Arg2215Pro
  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.6479G>C
  hgvsp: ENSP00000381756.2:p.Arg2160Pro
  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.6509G>C
  hgvsp: ENSP00000347044.2:p.Arg2170Pro
  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.6656G>C
  hgvsp: ENSP00000388180.2:p.Arg2219Pro
  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.6986G>C
  hgvsp: ENSP00000323856.4:p.Arg2329Pro
  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.6587G>C
  hgvsp: ENSP00000350277.2:p.Arg2196Pro
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg2329Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-144997522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997522
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997522
    reference: chr 8
allele count: 4
allele frequency: 3.816284084187227e-5
allele num: 104814
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.6479G>A
  hgvsp: ENSP00000381756.2:p.Arg2160Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-959G>A
  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.6986G>A
  hgvsp: ENSP00000323856.4:p.Arg2329Gln
  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.6509G>A
  hgvsp: ENSP00000347044.2:p.Arg2170Gln
  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.6587G>A
  hgvsp: ENSP00000350277.2:p.Arg2196Gln
  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.6575G>A
  hgvsp: ENSP00000344848.3:p.Arg2192Gln
  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.6575G>A
  hgvsp: ENSP00000346602.3:p.Arg2192Gln
  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.6644G>A
  hgvsp: ENSP00000434583.1:p.Arg2215Gln
  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.6533G>A
  hgvsp: ENSP00000348702.3:p.Arg2178Gln
  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.6656G>A
  hgvsp: ENSP00000388180.2:p.Arg2219Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg2329Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144997523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997523
    reference: chr 8
allele count: 2
allele frequency: 1.913070094888277e-5
allele num: 104544
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.6985C>T
  hgvsp: ENSP00000323856.4:p.Arg2329Trp
  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.6478C>T
  hgvsp: ENSP00000381756.2:p.Arg2160Trp
  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.6532C>T
  hgvsp: ENSP00000348702.3:p.Arg2178Trp
  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.6643C>T
  hgvsp: ENSP00000434583.1:p.Arg2215Trp
  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.6508C>T
  hgvsp: ENSP00000347044.2:p.Arg2170Trp
  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.6574C>T
  hgvsp: ENSP00000346602.3:p.Arg2192Trp
  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.6586C>T
  hgvsp: ENSP00000350277.2:p.Arg2196Trp
  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.6574C>T
  hgvsp: ENSP00000344848.3:p.Arg2192Trp
  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.6655C>T
  hgvsp: ENSP00000388180.2:p.Arg2219Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-960C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg2329Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-144997523-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997523
    reference: chr 8
allele count: 1
allele frequency: 9.565350474441383e-6
allele num: 104544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.6985C>A
  hgvsp: ENST00000322810.4:c.6985C>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.6574C>A
  hgvsp: ENST00000345136.3:c.6574C>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.6508C>A
  hgvsp: ENST00000354958.2:c.6508C>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.6643C>A
  hgvsp: ENST00000527096.1:c.6643C>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.6586C>A
  hgvsp: ENST00000357649.2:c.6586C>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.6574C>A
  hgvsp: ENST00000354589.3:c.6574C>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.6478C>A
  hgvsp: ENST00000398774.2:c.6478C>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.6655C>A
  hgvsp: ENST00000436759.2:c.6655C>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.6532C>A
  hgvsp: ENST00000356346.3:c.6532C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-960C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2329Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

8-144997526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997526
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997526
    reference: chr 8
allele count: 1
allele frequency: 9.521995810321844e-6
allele num: 105020
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.6505C>T
  hgvsp: ENST00000354958.2:c.6505C>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.6583C>T
  hgvsp: ENST00000357649.2:c.6583C>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.6529C>T
  hgvsp: ENST00000356346.3:c.6529C>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.6652C>T
  hgvsp: ENST00000436759.2:c.6652C>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.6475C>T
  hgvsp: ENST00000398774.2:c.6475C>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.6982C>T
  hgvsp: ENST00000322810.4:c.6982C>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.6640C>T
  hgvsp: ENST00000527096.1:c.6640C>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.6571C>T
  hgvsp: ENST00000354589.3:c.6571C>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.6571C>T
  hgvsp: ENST00000345136.3:c.6571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-963C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2328Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-144997530-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997530
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997530
    reference: chr 8
allele count: 1
allele frequency: 9.519820265793382e-6
allele num: 105044
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.6978A>G
  hgvsp: ENST00000322810.4:c.6978A>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.6579A>G
  hgvsp: ENST00000357649.2:c.6579A>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.6567A>G
  hgvsp: ENST00000345136.3:c.6567A>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.6648A>G
  hgvsp: ENST00000436759.2:c.6648A>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.6525A>G
  hgvsp: ENST00000356346.3:c.6525A>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.6636A>G
  hgvsp: ENST00000527096.1:c.6636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-967A>G
  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.6501A>G
  hgvsp: ENST00000354958.2:c.6501A>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.6567A>G
  hgvsp: ENST00000354589.3:c.6567A>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.6471A>G
  hgvsp: ENST00000398774.2:c.6471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2326Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

8-144997532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997532
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997532
    reference: chr 8
allele count: 3
allele frequency: 2.85638115550139e-5
allele num: 105028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6577A>G
  hgvsp: ENSP00000350277.2:p.Thr2193Ala
  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.6565A>G
  hgvsp: ENSP00000346602.3:p.Thr2189Ala
  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.6469A>G
  hgvsp: ENSP00000381756.2:p.Thr2157Ala
  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.6499A>G
  hgvsp: ENSP00000347044.2:p.Thr2167Ala
  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.6634A>G
  hgvsp: ENSP00000434583.1:p.Thr2212Ala
  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.6565A>G
  hgvsp: ENSP00000344848.3:p.Thr2189Ala
  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.6523A>G
  hgvsp: ENSP00000348702.3:p.Thr2175Ala
  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.6646A>G
  hgvsp: ENSP00000388180.2:p.Thr2216Ala
  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.6976A>G
  hgvsp: ENSP00000323856.4:p.Thr2326Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-969A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr2326Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

8-144997533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997533
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997533
    reference: chr 8
allele count: 2
allele frequency: 1.905124785673462e-5
allele num: 104980
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.6468G>A
  hgvsp: ENST00000398774.2:c.6468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-970G>A
  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.6576G>A
  hgvsp: ENST00000357649.2:c.6576G>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.6498G>A
  hgvsp: ENST00000354958.2:c.6498G>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.6975G>A
  hgvsp: ENST00000322810.4:c.6975G>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.6633G>A
  hgvsp: ENST00000527096.1:c.6633G>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.6564G>A
  hgvsp: ENST00000345136.3:c.6564G>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.6645G>A
  hgvsp: ENST00000436759.2:c.6645G>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.6522G>A
  hgvsp: ENST00000356346.3:c.6522G>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.6564G>A
  hgvsp: ENST00000354589.3:c.6564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu2325Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-144997536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997536
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997536
    reference: chr 8
allele count: 1
allele frequency: 9.522902580706599e-6
allele num: 105010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6519G>A
  hgvsp: ENST00000356346.3:c.6519G>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.6561G>A
  hgvsp: ENST00000345136.3:c.6561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-973G>A
  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.6972G>A
  hgvsp: ENST00000322810.4:c.6972G>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.6465G>A
  hgvsp: ENST00000398774.2:c.6465G>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.6630G>A
  hgvsp: ENST00000527096.1:c.6630G>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.6495G>A
  hgvsp: ENST00000354958.2:c.6495G>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.6642G>A
  hgvsp: ENST00000436759.2:c.6642G>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.6561G>A
  hgvsp: ENST00000354589.3:c.6561G>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.6573G>A
  hgvsp: ENST00000357649.2:c.6573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2324Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

8-144997550-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997550
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997550
    reference: chr 8
allele count: 1
allele frequency: 9.521995810321844e-6
allele num: 105020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6547C>G
  hgvsp: ENSP00000344848.3:p.Gln2183Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-987C>G
  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.6559C>G
  hgvsp: ENSP00000350277.2:p.Gln2187Glu
  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.6616C>G
  hgvsp: ENSP00000434583.1:p.Gln2206Glu
  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.6958C>G
  hgvsp: ENSP00000323856.4:p.Gln2320Glu
  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.6547C>G
  hgvsp: ENSP00000346602.3:p.Gln2183Glu
  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.6505C>G
  hgvsp: ENSP00000348702.3:p.Gln2169Glu
  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.6481C>G
  hgvsp: ENSP00000347044.2:p.Gln2161Glu
  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.6628C>G
  hgvsp: ENSP00000388180.2:p.Gln2210Glu
  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.6451C>G
  hgvsp: ENSP00000381756.2:p.Gln2151Glu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2320Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-144997551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997551
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997551
    reference: chr 8
allele count: 7
allele frequency: 6.678879474849248e-5
allele num: 104808
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.6480G>A
  hgvsp: ENST00000354958.2:c.6480G>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.6615G>A
  hgvsp: ENST00000527096.1:c.6615G>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.6558G>A
  hgvsp: ENST00000357649.2:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-988G>A
  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.6504G>A
  hgvsp: ENST00000356346.3:c.6504G>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.6957G>A
  hgvsp: ENST00000322810.4:c.6957G>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.6546G>A
  hgvsp: ENST00000345136.3:c.6546G>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.6627G>A
  hgvsp: ENST00000436759.2:c.6627G>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.6450G>A
  hgvsp: ENST00000398774.2:c.6450G>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.6546G>A
  hgvsp: ENST00000354589.3:c.6546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18566
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2319Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-144997552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997552
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997552
    reference: chr 8
allele count: 2
allele frequency: 1.907123104796414e-5
allele num: 104870
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.6614C>T
  hgvsp: ENSP00000434583.1:p.Ala2205Val
  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.6479C>T
  hgvsp: ENSP00000347044.2:p.Ala2160Val
  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.6449C>T
  hgvsp: ENSP00000381756.2:p.Ala2150Val
  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.6545C>T
  hgvsp: ENSP00000344848.3:p.Ala2182Val
  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.6557C>T
  hgvsp: ENSP00000350277.2:p.Ala2186Val
  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.6503C>T
  hgvsp: ENSP00000348702.3:p.Ala2168Val
  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.6626C>T
  hgvsp: ENSP00000388180.2:p.Ala2209Val
  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.6956C>T
  hgvsp: ENSP00000323856.4:p.Ala2319Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-989C>T
  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.6545C>T
  hgvsp: ENSP00000346602.3:p.Ala2182Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala2319Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

8-144997554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997554
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997554
    reference: chr 8
allele count: 1
allele frequency: 9.503896597605019e-6
allele num: 105220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6543G>A
  hgvsp: ENST00000345136.3:c.6543G>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.6954G>A
  hgvsp: ENST00000322810.4:c.6954G>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.6477G>A
  hgvsp: ENST00000354958.2:c.6477G>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.6555G>A
  hgvsp: ENST00000357649.2:c.6555G>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.6543G>A
  hgvsp: ENST00000354589.3:c.6543G>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.6501G>A
  hgvsp: ENST00000356346.3:c.6501G>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.6612G>A
  hgvsp: ENST00000527096.1:c.6612G>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.6447G>A
  hgvsp: ENST00000398774.2:c.6447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-991G>A
  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.6624G>A
  hgvsp: ENST00000436759.2:c.6624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys2318Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

8-144997560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997560
    reference: chr 8
allele count: 2
allele frequency: 1.896597504077685e-5
allele num: 105452
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.6471G>A
  hgvsp: ENST00000354958.2:c.6471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-997G>A
  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.6441G>A
  hgvsp: ENST00000398774.2:c.6441G>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.6537G>A
  hgvsp: ENST00000345136.3:c.6537G>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.6495G>A
  hgvsp: ENST00000356346.3:c.6495G>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.6948G>A
  hgvsp: ENST00000322810.4:c.6948G>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.6606G>A
  hgvsp: ENST00000527096.1:c.6606G>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.6549G>A
  hgvsp: ENST00000357649.2:c.6549G>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.6618G>A
  hgvsp: ENST00000436759.2:c.6618G>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.6537G>A
  hgvsp: ENST00000354589.3:c.6537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg2316Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144997561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997561
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997561
    reference: chr 8
allele count: 38
allele frequency: 3.598212256647224e-4
allele num: 105608
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.6548G>A
  hgvsp: ENSP00000350277.2:p.Arg2183Gln
  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.6536G>A
  hgvsp: ENSP00000344848.3:p.Arg2179Gln
  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.6536G>A
  hgvsp: ENSP00000346602.3:p.Arg2179Gln
  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.6470G>A
  hgvsp: ENSP00000347044.2:p.Arg2157Gln
  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.6440G>A
  hgvsp: ENSP00000381756.2:p.Arg2147Gln
  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.6947G>A
  hgvsp: ENSP00000323856.4:p.Arg2316Gln
  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.6605G>A
  hgvsp: ENSP00000434583.1:p.Arg2202Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-998G>A
  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.6494G>A
  hgvsp: ENSP00000348702.3:p.Arg2165Gln
  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.6617G>A
  hgvsp: ENSP00000388180.2:p.Arg2206Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20753
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Arg2316Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-144997562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997562
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997562
    reference: chr 8
allele count: 4
allele frequency: 3.794202458643193e-5
allele num: 105424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6535C>T
  hgvsp: ENSP00000346602.3:p.Arg2179Trp
  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.6547C>T
  hgvsp: ENSP00000350277.2:p.Arg2183Trp
  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.6493C>T
  hgvsp: ENSP00000348702.3:p.Arg2165Trp
  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.6616C>T
  hgvsp: ENSP00000388180.2:p.Arg2206Trp
  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.6439C>T
  hgvsp: ENSP00000381756.2:p.Arg2147Trp
  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.6604C>T
  hgvsp: ENSP00000434583.1:p.Arg2202Trp
  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.6469C>T
  hgvsp: ENSP00000347044.2:p.Arg2157Trp
  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.6946C>T
  hgvsp: ENSP00000323856.4:p.Arg2316Trp
  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.6535C>T
  hgvsp: ENSP00000344848.3:p.Arg2179Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-999C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20935
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2316Trp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144997563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997563
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997563
    reference: chr 8
allele count: 1
allele frequency: 9.432182607055272e-6
allele num: 106020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6492G>A
  hgvsp: ENST00000356346.3:c.6492G>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.6534G>A
  hgvsp: ENST00000345136.3:c.6534G>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.6546G>A
  hgvsp: ENST00000357649.2:c.6546G>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.6603G>A
  hgvsp: ENST00000527096.1:c.6603G>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.6468G>A
  hgvsp: ENST00000354958.2:c.6468G>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.6438G>A
  hgvsp: ENST00000398774.2:c.6438G>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.6945G>A
  hgvsp: ENST00000322810.4:c.6945G>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.6534G>A
  hgvsp: ENST00000354589.3:c.6534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1000G>A
  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.6615G>A
  hgvsp: ENST00000436759.2:c.6615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2315Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

8-144997566-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997566
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997566
    reference: chr 8
allele count: 1
allele frequency: 9.434674315042644e-6
allele num: 105992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6531G>C
  hgvsp: ENST00000354589.3:c.6531G>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.6465G>C
  hgvsp: ENST00000354958.2:c.6465G>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.6600G>C
  hgvsp: ENST00000527096.1:c.6600G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1003G>C
  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.6531G>C
  hgvsp: ENST00000345136.3:c.6531G>C(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.6942G>C
  hgvsp: ENST00000322810.4:c.6942G>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.6612G>C
  hgvsp: ENST00000436759.2:c.6612G>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.6543G>C
  hgvsp: ENST00000357649.2:c.6543G>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.6489G>C
  hgvsp: ENST00000356346.3:c.6489G>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.6435G>C
  hgvsp: ENST00000398774.2:c.6435G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22209
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2314Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-144997574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997574
    reference: chr 8
allele count: 9
allele frequency: 8.429807800382151e-5
allele num: 106764
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.6457G>A
  hgvsp: ENSP00000347044.2:p.Glu2153Lys
  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.6535G>A
  hgvsp: ENSP00000350277.2:p.Glu2179Lys
  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.6592G>A
  hgvsp: ENSP00000434583.1:p.Glu2198Lys
  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.6523G>A
  hgvsp: ENSP00000344848.3:p.Glu2175Lys
  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.6427G>A
  hgvsp: ENSP00000381756.2:p.Glu2143Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1011G>A
  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.6604G>A
  hgvsp: ENSP00000388180.2:p.Glu2202Lys
  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.6481G>A
  hgvsp: ENSP00000348702.3:p.Glu2161Lys
  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.6523G>A
  hgvsp: ENSP00000346602.3:p.Glu2175Lys
  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.6934G>A
  hgvsp: ENSP00000323856.4:p.Glu2312Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu2312Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

8-144997575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997575
    reference: chr 8
allele count: 2
allele frequency: 1.871467604895759e-5
allele num: 106868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1012C>T
  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.6603C>T
  hgvsp: ENST00000436759.2:c.6603C>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.6456C>T
  hgvsp: ENST00000354958.2:c.6456C>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.6426C>T
  hgvsp: ENST00000398774.2:c.6426C>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.6933C>T
  hgvsp: ENST00000322810.4:c.6933C>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.6522C>T
  hgvsp: ENST00000354589.3:c.6522C>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.6534C>T
  hgvsp: ENST00000357649.2:c.6534C>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.6522C>T
  hgvsp: ENST00000345136.3:c.6522C>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.6591C>T
  hgvsp: ENST00000527096.1:c.6591C>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.6480C>T
  hgvsp: ENST00000356346.3:c.6480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2311Ala
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: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144997577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997577
    reference: chr 8
allele count: 1
allele frequency: 9.319143384340112e-6
allele num: 107306
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.6454G>A
  hgvsp: ENSP00000347044.2:p.Ala2152Thr
  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.6589G>A
  hgvsp: ENSP00000434583.1:p.Ala2197Thr
  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.6424G>A
  hgvsp: ENSP00000381756.2:p.Ala2142Thr
  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.6931G>A
  hgvsp: ENSP00000323856.4:p.Ala2311Thr
  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.6520G>A
  hgvsp: ENSP00000346602.3:p.Ala2174Thr
  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.6478G>A
  hgvsp: ENSP00000348702.3:p.Ala2160Thr
  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.6532G>A
  hgvsp: ENSP00000350277.2:p.Ala2178Thr
  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.6601G>A
  hgvsp: ENSP00000388180.2:p.Ala2201Thr
  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.6520G>A
  hgvsp: ENSP00000344848.3:p.Ala2174Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1014G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala2311Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-144997578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
allele count: 7
allele frequency: 6.517084070384508e-5
allele num: 107410
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.6453C>T
  hgvsp: ENST00000354958.2:c.6453C>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.6477C>T
  hgvsp: ENST00000356346.3:c.6477C>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.6930C>T
  hgvsp: ENST00000322810.4:c.6930C>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.6423C>T
  hgvsp: ENST00000398774.2:c.6423C>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.6588C>T
  hgvsp: ENST00000527096.1:c.6588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1015C>T
  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.6600C>T
  hgvsp: ENST00000436759.2:c.6600C>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.6519C>T
  hgvsp: ENST00000345136.3:c.6519C>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.6519C>T
  hgvsp: ENST00000354589.3:c.6519C>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.6531C>T
  hgvsp: ENST00000357649.2:c.6531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe2310Phe
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: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-144997578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
allele count: 2
allele frequency: 1.862024020109859e-5
allele num: 107410
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.6600C>G
  hgvsp: ENSP00000388180.2:p.Phe2200Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1015C>G
  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.6453C>G
  hgvsp: ENSP00000347044.2:p.Phe2151Leu
  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.6531C>G
  hgvsp: ENSP00000350277.2:p.Phe2177Leu
  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.6423C>G
  hgvsp: ENSP00000381756.2:p.Phe2141Leu
  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.6930C>G
  hgvsp: ENSP00000323856.4:p.Phe2310Leu
  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.6519C>G
  hgvsp: ENSP00000346602.3:p.Phe2173Leu
  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.6477C>G
  hgvsp: ENSP00000348702.3:p.Phe2159Leu
  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.6519C>G
  hgvsp: ENSP00000344848.3:p.Phe2173Leu
  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.6588C>G
  hgvsp: ENSP00000434583.1:p.Phe2196Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe2310Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-144997578-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997578
    reference: chr 8
allele count: 1
allele frequency: 9.310120100549296e-6
allele num: 107410
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.6423C>A
  hgvsp: ENSP00000381756.2:p.Phe2141Leu
  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.6531C>A
  hgvsp: ENSP00000350277.2:p.Phe2177Leu
  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.6588C>A
  hgvsp: ENSP00000434583.1:p.Phe2196Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1015C>A
  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.6930C>A
  hgvsp: ENSP00000323856.4:p.Phe2310Leu
  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.6453C>A
  hgvsp: ENSP00000347044.2:p.Phe2151Leu
  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.6519C>A
  hgvsp: ENSP00000344848.3:p.Phe2173Leu
  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.6600C>A
  hgvsp: ENSP00000388180.2:p.Phe2200Leu
  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.6477C>A
  hgvsp: ENSP00000348702.3:p.Phe2159Leu
  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.6519C>A
  hgvsp: ENSP00000346602.3:p.Phe2173Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe2310Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

8-144997579-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997579
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997579
    reference: chr 8
allele count: 1
allele frequency: 9.274545083563651e-6
allele num: 107822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1016T>A
  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.6422T>A
  hgvsp: ENSP00000381756.2:p.Phe2141Tyr
  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.6518T>A
  hgvsp: ENSP00000346602.3:p.Phe2173Tyr
  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.6929T>A
  hgvsp: ENSP00000323856.4:p.Phe2310Tyr
  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.6587T>A
  hgvsp: ENSP00000434583.1:p.Phe2196Tyr
  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.6518T>A
  hgvsp: ENSP00000344848.3:p.Phe2173Tyr
  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.6599T>A
  hgvsp: ENSP00000388180.2:p.Phe2200Tyr
  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.6476T>A
  hgvsp: ENSP00000348702.3:p.Phe2159Tyr
  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.6530T>A
  hgvsp: ENSP00000350277.2:p.Phe2177Tyr
  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.6452T>A
  hgvsp: ENSP00000347044.2:p.Phe2151Tyr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe2310Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

8-144997582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997582
    reference: chr 8
allele count: 7
allele frequency: 6.480641398337253e-5
allele num: 108014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6527A>G
  hgvsp: ENSP00000350277.2:p.Lys2176Arg
  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.6449A>G
  hgvsp: ENSP00000347044.2:p.Lys2150Arg
  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.6926A>G
  hgvsp: ENSP00000323856.4:p.Lys2309Arg
  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.6515A>G
  hgvsp: ENSP00000346602.3:p.Lys2172Arg
  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.6584A>G
  hgvsp: ENSP00000434583.1:p.Lys2195Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1019A>G
  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.6473A>G
  hgvsp: ENSP00000348702.3:p.Lys2158Arg
  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.6419A>G
  hgvsp: ENSP00000381756.2:p.Lys2140Arg
  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.6596A>G
  hgvsp: ENSP00000388180.2:p.Lys2199Arg
  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.6515A>G
  hgvsp: ENSP00000344848.3:p.Lys2172Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys2309Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144997584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997584
    reference: chr 8
allele count: 98
allele frequency: 9.067525305797665e-4
allele num: 108078
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6513G>A
  hgvsp: ENST00000345136.3:c.6513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6417G>A
  hgvsp: ENST00000398774.2:c.6417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6471G>A
  hgvsp: ENST00000356346.3:c.6471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.6447G>A
  hgvsp: ENST00000354958.2:c.6447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1021G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.6582G>A
  hgvsp: ENST00000527096.1:c.6582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.6924G>A
  hgvsp: ENST00000322810.4:c.6924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.6594G>A
  hgvsp: ENST00000436759.2:c.6594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6513G>A
  hgvsp: ENST00000354589.3:c.6513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6525G>A
  hgvsp: ENST00000357649.2:c.6525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27724
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2308Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

8-144997587-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997587
    reference: chr 8
allele count: 6
allele frequency: 5.544876534082508e-5
allele num: 108208
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.6579T>A
  hgvsp: ENSP00000434583.1:p.His2193Gln
  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.6414T>A
  hgvsp: ENSP00000381756.2:p.His2138Gln
  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.6522T>A
  hgvsp: ENSP00000350277.2:p.His2174Gln
  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.6510T>A
  hgvsp: ENSP00000344848.3:p.His2170Gln
  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.6921T>A
  hgvsp: ENSP00000323856.4:p.His2307Gln
  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.6591T>A
  hgvsp: ENSP00000388180.2:p.His2197Gln
  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.6510T>A
  hgvsp: ENSP00000346602.3:p.His2170Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1024T>A
  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.6444T>A
  hgvsp: ENSP00000347044.2:p.His2148Gln
  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.6468T>A
  hgvsp: ENSP00000348702.3:p.His2156Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His2307Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-144997587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997587
    reference: chr 8
allele count: 4
allele frequency: 3.696584356055005e-5
allele num: 108208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.6591T>C
  hgvsp: ENST00000436759.2:c.6591T>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.6510T>C
  hgvsp: ENST00000345136.3:c.6510T>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.6522T>C
  hgvsp: ENST00000357649.2:c.6522T>C(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.6921T>C
  hgvsp: ENST00000322810.4:c.6921T>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.6444T>C
  hgvsp: ENST00000354958.2:c.6444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1024T>C
  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.6510T>C
  hgvsp: ENST00000354589.3:c.6510T>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.6414T>C
  hgvsp: ENST00000398774.2:c.6414T>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.6579T>C
  hgvsp: ENST00000527096.1:c.6579T>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.6468T>C
  hgvsp: ENST00000356346.3:c.6468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His2307His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

8-144997588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997588
    reference: chr 8
allele count: 1
allele frequency: 9.237192632415156e-6
allele num: 108258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6521A>G
  hgvsp: ENSP00000350277.2:p.His2174Arg
  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.6509A>G
  hgvsp: ENSP00000346602.3:p.His2170Arg
  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.6920A>G
  hgvsp: ENSP00000323856.4:p.His2307Arg
  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.6578A>G
  hgvsp: ENSP00000434583.1:p.His2193Arg
  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.6590A>G
  hgvsp: ENSP00000388180.2:p.His2197Arg
  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.6443A>G
  hgvsp: ENSP00000347044.2:p.His2148Arg
  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.6467A>G
  hgvsp: ENSP00000348702.3:p.His2156Arg
  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.6413A>G
  hgvsp: ENSP00000381756.2:p.His2138Arg
  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.6509A>G
  hgvsp: ENSP00000344848.3:p.His2170Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1025A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His2307Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

8-144997590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997590
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997590
    reference: chr 8
allele count: 60
allele frequency: 5.541496573507952e-4
allele num: 108274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6507G>A
  hgvsp: ENST00000354589.3:c.6507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1027G>A
  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.6441G>A
  hgvsp: ENST00000354958.2:c.6441G>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.6411G>A
  hgvsp: ENST00000398774.2:c.6411G>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.6588G>A
  hgvsp: ENST00000436759.2:c.6588G>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.6576G>A
  hgvsp: ENST00000527096.1:c.6576G>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.6918G>A
  hgvsp: ENST00000322810.4:c.6918G>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.6507G>A
  hgvsp: ENST00000345136.3:c.6507G>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.6465G>A
  hgvsp: ENST00000356346.3:c.6465G>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.6519G>A
  hgvsp: ENST00000357649.2:c.6519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 27500
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Lys2306Lys
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: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

8-144997594-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997594
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997594
    reference: chr 8
allele count: 2
allele frequency: 1.847233767433269e-5
allele num: 108270
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.6437A>T
  hgvsp: ENSP00000347044.2:p.Glu2146Val
  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.6515A>T
  hgvsp: ENSP00000350277.2:p.Glu2172Val
  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.6503A>T
  hgvsp: ENSP00000344848.3:p.Glu2168Val
  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.6461A>T
  hgvsp: ENSP00000348702.3:p.Glu2154Val
  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.6572A>T
  hgvsp: ENSP00000434583.1:p.Glu2191Val
  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.6584A>T
  hgvsp: ENSP00000388180.2:p.Glu2195Val
  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.6914A>T
  hgvsp: ENSP00000323856.4:p.Glu2305Val
  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.6503A>T
  hgvsp: ENSP00000346602.3:p.Glu2168Val
  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.6407A>T
  hgvsp: ENSP00000381756.2:p.Glu2136Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1031A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu2305Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-144997594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997594
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997594
    reference: chr 8
allele count: 2
allele frequency: 1.847233767433269e-5
allele num: 108270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1031A>G
  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.6914A>G
  hgvsp: ENSP00000323856.4:p.Glu2305Gly
  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.6515A>G
  hgvsp: ENSP00000350277.2:p.Glu2172Gly
  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.6572A>G
  hgvsp: ENSP00000434583.1:p.Glu2191Gly
  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.6503A>G
  hgvsp: ENSP00000346602.3:p.Glu2168Gly
  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.6584A>G
  hgvsp: ENSP00000388180.2:p.Glu2195Gly
  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.6407A>G
  hgvsp: ENSP00000381756.2:p.Glu2136Gly
  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.6503A>G
  hgvsp: ENSP00000344848.3:p.Glu2168Gly
  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.6437A>G
  hgvsp: ENSP00000347044.2:p.Glu2146Gly
  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.6461A>G
  hgvsp: ENSP00000348702.3:p.Glu2154Gly
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu2305Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144997602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997602
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997602
    reference: chr 8
allele count: 11
allele frequency: 1.016316499436406e-4
allele num: 108234
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.6576G>A
  hgvsp: ENST00000436759.2:c.6576G>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.6906G>A
  hgvsp: ENST00000322810.4:c.6906G>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.6564G>A
  hgvsp: ENST00000527096.1:c.6564G>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.6495G>A
  hgvsp: ENST00000345136.3:c.6495G>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.6453G>A
  hgvsp: ENST00000356346.3:c.6453G>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.6507G>A
  hgvsp: ENST00000357649.2:c.6507G>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.6429G>A
  hgvsp: ENST00000354958.2:c.6429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1039G>A
  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.6399G>A
  hgvsp: ENST00000398774.2:c.6399G>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.6495G>A
  hgvsp: ENST00000354589.3:c.6495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2302Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

8-144997603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997603
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997603
    reference: chr 8
allele count: 3
allele frequency: 2.771977158908211e-5
allele num: 108226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6398C>T
  hgvsp: ENSP00000381756.2:p.Ala2133Val
  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.6428C>T
  hgvsp: ENSP00000347044.2:p.Ala2143Val
  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.6563C>T
  hgvsp: ENSP00000434583.1:p.Ala2188Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1040C>T
  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.6506C>T
  hgvsp: ENSP00000350277.2:p.Ala2169Val
  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.6494C>T
  hgvsp: ENSP00000346602.3:p.Ala2165Val
  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.6494C>T
  hgvsp: ENSP00000344848.3:p.Ala2165Val
  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.6452C>T
  hgvsp: ENSP00000348702.3:p.Ala2151Val
  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.6905C>T
  hgvsp: ENSP00000323856.4:p.Ala2302Val
  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.6575C>T
  hgvsp: ENSP00000388180.2:p.Ala2192Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26768
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2302Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-144997604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997604
    reference: chr 8
allele count: 23
allele frequency: 2.124240353178048e-4
allele num: 108274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1041G>A
  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.6904G>A
  hgvsp: ENSP00000323856.4:p.Ala2302Thr
  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.6562G>A
  hgvsp: ENSP00000434583.1:p.Ala2188Thr
  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.6427G>A
  hgvsp: ENSP00000347044.2:p.Ala2143Thr
  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.6574G>A
  hgvsp: ENSP00000388180.2:p.Ala2192Thr
  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.6505G>A
  hgvsp: ENSP00000350277.2:p.Ala2169Thr
  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.6493G>A
  hgvsp: ENSP00000346602.3:p.Ala2165Thr
  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.6451G>A
  hgvsp: ENSP00000348702.3:p.Ala2151Thr
  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.6493G>A
  hgvsp: ENSP00000344848.3:p.Ala2165Thr
  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.6397G>A
  hgvsp: ENSP00000381756.2:p.Ala2133Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26691
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2302Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-144997605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997605
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997605
    reference: chr 8
allele count: 79
allele frequency: 7.297516996748448e-4
allele num: 108256
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.6561C>T
  hgvsp: ENST00000527096.1:c.6561C>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.6903C>T
  hgvsp: ENST00000322810.4:c.6903C>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.6573C>T
  hgvsp: ENST00000436759.2:c.6573C>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.6426C>T
  hgvsp: ENST00000354958.2:c.6426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1042C>T
  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.6504C>T
  hgvsp: ENST00000357649.2:c.6504C>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.6450C>T
  hgvsp: ENST00000356346.3:c.6450C>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.6396C>T
  hgvsp: ENST00000398774.2:c.6396C>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.6492C>T
  hgvsp: ENST00000345136.3:c.6492C>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.6492C>T
  hgvsp: ENST00000354589.3:c.6492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26705
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp2301Asp
num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-144997605-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997605
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997605
    reference: chr 8
allele count: 1
allele frequency: 9.237363287023353e-6
allele num: 108256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6504C>G
  hgvsp: ENSP00000350277.2:p.Asp2168Glu
  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.6492C>G
  hgvsp: ENSP00000346602.3:p.Asp2164Glu
  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.6426C>G
  hgvsp: ENSP00000347044.2:p.Asp2142Glu
  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.6492C>G
  hgvsp: ENSP00000344848.3:p.Asp2164Glu
  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.6561C>G
  hgvsp: ENSP00000434583.1:p.Asp2187Glu
  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.6396C>G
  hgvsp: ENSP00000381756.2:p.Asp2132Glu
  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.6903C>G
  hgvsp: ENSP00000323856.4:p.Asp2301Glu
  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.6450C>G
  hgvsp: ENSP00000348702.3:p.Asp2150Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1042C>G
  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.6573C>G
  hgvsp: ENSP00000388180.2:p.Asp2191Glu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2301Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

8-144997609-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997609
    reference: chr 8
allele count: 3
allele frequency: 2.770850651149903e-5
allele num: 108270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6500C>G
  hgvsp: ENSP00000350277.2:p.Ala2167Gly
  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.6488C>G
  hgvsp: ENSP00000346602.3:p.Ala2163Gly
  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.6569C>G
  hgvsp: ENSP00000388180.2:p.Ala2190Gly
  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.6557C>G
  hgvsp: ENSP00000434583.1:p.Ala2186Gly
  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.6422C>G
  hgvsp: ENSP00000347044.2:p.Ala2141Gly
  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.6899C>G
  hgvsp: ENSP00000323856.4:p.Ala2300Gly
  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.6488C>G
  hgvsp: ENSP00000344848.3:p.Ala2163Gly
  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.6446C>G
  hgvsp: ENSP00000348702.3:p.Ala2149Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1046C>G
  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.6392C>G
  hgvsp: ENSP00000381756.2:p.Ala2131Gly
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2300Gly
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144997612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997612
    reference: chr 8
allele count: 1
allele frequency: 9.287638153617536e-6
allele num: 107670
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.6566C>T
  hgvsp: ENSP00000388180.2:p.Ala2189Val
  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.6554C>T
  hgvsp: ENSP00000434583.1:p.Ala2185Val
  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.6896C>T
  hgvsp: ENSP00000323856.4:p.Ala2299Val
  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.6485C>T
  hgvsp: ENSP00000346602.3:p.Ala2162Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1049C>T
  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.6485C>T
  hgvsp: ENSP00000344848.3:p.Ala2162Val
  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.6443C>T
  hgvsp: ENSP00000348702.3:p.Ala2148Val
  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.6419C>T
  hgvsp: ENSP00000347044.2:p.Ala2140Val
  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.6389C>T
  hgvsp: ENSP00000381756.2:p.Ala2130Val
  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.6497C>T
  hgvsp: ENSP00000350277.2:p.Ala2166Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2299Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

8-144997613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997613
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997613
    reference: chr 8
allele count: 1
allele frequency: 9.265436216737084e-6
allele num: 107928
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.6388G>A
  hgvsp: ENSP00000381756.2:p.Ala2130Thr
  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.6565G>A
  hgvsp: ENSP00000388180.2:p.Ala2189Thr
  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.6418G>A
  hgvsp: ENSP00000347044.2:p.Ala2140Thr
  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.6895G>A
  hgvsp: ENSP00000323856.4:p.Ala2299Thr
  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.6442G>A
  hgvsp: ENSP00000348702.3:p.Ala2148Thr
  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.6484G>A
  hgvsp: ENSP00000346602.3:p.Ala2162Thr
  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.6484G>A
  hgvsp: ENSP00000344848.3:p.Ala2162Thr
  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.6553G>A
  hgvsp: ENSP00000434583.1:p.Ala2185Thr
  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.6496G>A
  hgvsp: ENSP00000350277.2:p.Ala2166Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1050G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala2299Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

8-144997624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997624
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997624
    reference: chr 8
allele count: 3
allele frequency: 2.800126939087905e-5
allele num: 107138
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.6431G>A
  hgvsp: ENSP00000348702.3:p.Arg2144Gln
  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.6377G>A
  hgvsp: ENSP00000381756.2:p.Arg2126Gln
  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.6485G>A
  hgvsp: ENSP00000350277.2:p.Arg2162Gln
  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.6473G>A
  hgvsp: ENSP00000346602.3:p.Arg2158Gln
  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.6407G>A
  hgvsp: ENSP00000347044.2:p.Arg2136Gln
  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.6884G>A
  hgvsp: ENSP00000323856.4:p.Arg2295Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1061G>A
  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.6542G>A
  hgvsp: ENSP00000434583.1:p.Arg2181Gln
  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.6473G>A
  hgvsp: ENSP00000344848.3:p.Arg2158Gln
  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.6554G>A
  hgvsp: ENSP00000388180.2:p.Arg2185Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg2295Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

8-144997625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997625
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997625
    reference: chr 8
allele count: 7
allele frequency: 6.543156792731488e-5
allele num: 106982
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.6541C>T
  hgvsp: ENSP00000434583.1:p.Arg2181Trp
  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.6553C>T
  hgvsp: ENSP00000388180.2:p.Arg2185Trp
  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.6883C>T
  hgvsp: ENSP00000323856.4:p.Arg2295Trp
  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.6376C>T
  hgvsp: ENSP00000381756.2:p.Arg2126Trp
  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.6430C>T
  hgvsp: ENSP00000348702.3:p.Arg2144Trp
  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.6406C>T
  hgvsp: ENSP00000347044.2:p.Arg2136Trp
  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.6472C>T
  hgvsp: ENSP00000344848.3:p.Arg2158Trp
  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.6484C>T
  hgvsp: ENSP00000350277.2:p.Arg2162Trp
  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.6472C>T
  hgvsp: ENSP00000346602.3:p.Arg2158Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1062C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Arg2295Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-144997628-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997628
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997628
    reference: chr 8
allele count: 2
allele frequency: 1.867832193955695e-5
allele num: 107076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6469C>G
  hgvsp: ENSP00000344848.3:p.Leu2157Val
  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.6373C>G
  hgvsp: ENSP00000381756.2:p.Leu2125Val
  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.6469C>G
  hgvsp: ENSP00000346602.3:p.Leu2157Val
  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.6880C>G
  hgvsp: ENSP00000323856.4:p.Leu2294Val
  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.6538C>G
  hgvsp: ENSP00000434583.1:p.Leu2180Val
  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.6403C>G
  hgvsp: ENSP00000347044.2:p.Leu2135Val
  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.6427C>G
  hgvsp: ENSP00000348702.3:p.Leu2143Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1065C>G
  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.6481C>G
  hgvsp: ENSP00000350277.2:p.Leu2161Val
  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.6550C>G
  hgvsp: ENSP00000388180.2:p.Leu2184Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu2294Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144997629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997629
    reference: chr 8
allele count: 1
allele frequency: 9.337591274954713e-6
allele num: 107094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1066C>T
  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.6537C>T
  hgvsp: ENST00000527096.1:c.6537C>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.6468C>T
  hgvsp: ENST00000354589.3:c.6468C>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.6402C>T
  hgvsp: ENST00000354958.2:c.6402C>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.6879C>T
  hgvsp: ENST00000322810.4:c.6879C>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.6480C>T
  hgvsp: ENST00000357649.2:c.6480C>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.6426C>T
  hgvsp: ENST00000356346.3:c.6426C>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.6372C>T
  hgvsp: ENST00000398774.2:c.6372C>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.6468C>T
  hgvsp: ENST00000345136.3:c.6468C>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.6549C>T
  hgvsp: ENST00000436759.2:c.6549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2293Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

8-144997632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997632
    reference: chr 8
allele count: 10
allele frequency: 9.465215333648841e-5
allele num: 105650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1069G>A
  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.6399G>A
  hgvsp: ENST00000354958.2:c.6399G>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.6369G>A
  hgvsp: ENST00000398774.2:c.6369G>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.6876G>A
  hgvsp: ENST00000322810.4:c.6876G>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.6465G>A
  hgvsp: ENST00000345136.3:c.6465G>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.6423G>A
  hgvsp: ENST00000356346.3:c.6423G>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.6546G>A
  hgvsp: ENST00000436759.2:c.6546G>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.6477G>A
  hgvsp: ENST00000357649.2:c.6477G>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.6465G>A
  hgvsp: ENST00000354589.3:c.6465G>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.6534G>A
  hgvsp: ENST00000527096.1:c.6534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21533
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2292Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

8-144997633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997633
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997633
    reference: chr 8
allele count: 32
allele frequency: 3.032140691328078e-4
allele num: 105536
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.6464C>T
  hgvsp: ENSP00000344848.3:p.Ala2155Val
  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.6875C>T
  hgvsp: ENSP00000323856.4:p.Ala2292Val
  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.6533C>T
  hgvsp: ENSP00000434583.1:p.Ala2178Val
  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.6422C>T
  hgvsp: ENSP00000348702.3:p.Ala2141Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1070C>T
  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.6464C>T
  hgvsp: ENSP00000346602.3:p.Ala2155Val
  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.6476C>T
  hgvsp: ENSP00000350277.2:p.Ala2159Val
  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.6398C>T
  hgvsp: ENSP00000347044.2:p.Ala2133Val
  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.6368C>T
  hgvsp: ENSP00000381756.2:p.Ala2123Val
  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.6545C>T
  hgvsp: ENSP00000388180.2:p.Ala2182Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21411
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2292Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

8-144997637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997637
    reference: chr 8
allele count: 2
allele frequency: 1.88707729468599e-5
allele num: 105984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1074C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.6541C>T
  hgvsp: ENSP00000388180.2:p.Gln2181Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6460C>T
  hgvsp: ENSP00000344848.3:p.Gln2154Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.6529C>T
  hgvsp: ENSP00000434583.1:p.Gln2177Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6364C>T
  hgvsp: ENSP00000381756.2:p.Gln2122Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.6394C>T
  hgvsp: ENSP00000347044.2:p.Gln2132Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6460C>T
  hgvsp: ENSP00000346602.3:p.Gln2154Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6418C>T
  hgvsp: ENSP00000348702.3:p.Gln2140Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6472C>T
  hgvsp: ENSP00000350277.2:p.Gln2158Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.6871C>T
  hgvsp: ENSP00000323856.4:p.Gln2291Ter
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21193
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln2291Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-144997640-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997640
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 104454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.6457G>T
  hgvsp: ENSP00000344848.3:p.Glu2153Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.6526G>T
  hgvsp: ENSP00000434583.1:p.Glu2176Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.6868G>T
  hgvsp: ENSP00000323856.4:p.Glu2290Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.6391G>T
  hgvsp: ENSP00000347044.2:p.Glu2131Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.6538G>T
  hgvsp: ENSP00000388180.2:p.Glu2180Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.6415G>T
  hgvsp: ENSP00000348702.3:p.Glu2139Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6361G>T
  hgvsp: ENSP00000381756.2:p.Glu2121Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.6457G>T
  hgvsp: ENSP00000346602.3:p.Glu2153Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.6469G>T
  hgvsp: ENSP00000350277.2:p.Glu2157Ter
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu2290Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-144997641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997641
    reference: chr 8
allele count: 25
allele frequency: 2.392344497607656e-4
allele num: 104500
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.6525G>A
  hgvsp: ENST00000527096.1:c.6525G>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.6414G>A
  hgvsp: ENST00000356346.3:c.6414G>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.6867G>A
  hgvsp: ENST00000322810.4:c.6867G>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.6390G>A
  hgvsp: ENST00000354958.2:c.6390G>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.6537G>A
  hgvsp: ENST00000436759.2:c.6537G>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.6456G>A
  hgvsp: ENST00000354589.3:c.6456G>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.6360G>A
  hgvsp: ENST00000398774.2:c.6360G>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.6456G>A
  hgvsp: ENST00000345136.3:c.6456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1078G>A
  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.6468G>A
  hgvsp: ENST00000357649.2:c.6468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2289Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

8-144997642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997642
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997642
    reference: chr 8
allele count: 9
allele frequency: 8.58663918942126e-5
allele num: 104814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.6359C>T
  hgvsp: ENSP00000381756.2:p.Ala2120Val
  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.6455C>T
  hgvsp: ENSP00000344848.3:p.Ala2152Val
  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.6866C>T
  hgvsp: ENSP00000323856.4:p.Ala2289Val
  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.6524C>T
  hgvsp: ENSP00000434583.1:p.Ala2175Val
  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.6467C>T
  hgvsp: ENSP00000350277.2:p.Ala2156Val
  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.6536C>T
  hgvsp: ENSP00000388180.2:p.Ala2179Val
  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.6389C>T
  hgvsp: ENSP00000347044.2:p.Ala2130Val
  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.6455C>T
  hgvsp: ENSP00000346602.3:p.Ala2152Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1079C>T
  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.6413C>T
  hgvsp: ENSP00000348702.3:p.Ala2138Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2289Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-144997648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997648
    reference: chr 8
allele count: 1
allele frequency: 9.513118590536349e-6
allele num: 105118
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.6518C>T
  hgvsp: ENSP00000434583.1:p.Ala2173Val
  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.6530C>T
  hgvsp: ENSP00000388180.2:p.Ala2177Val
  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.6860C>T
  hgvsp: ENSP00000323856.4:p.Ala2287Val
  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.6461C>T
  hgvsp: ENSP00000350277.2:p.Ala2154Val
  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.6449C>T
  hgvsp: ENSP00000344848.3:p.Ala2150Val
  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.6449C>T
  hgvsp: ENSP00000346602.3:p.Ala2150Val
  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.6383C>T
  hgvsp: ENSP00000347044.2:p.Ala2128Val
  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.6407C>T
  hgvsp: ENSP00000348702.3:p.Ala2136Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1085C>T
  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.6353C>T
  hgvsp: ENSP00000381756.2:p.Ala2118Val
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala2287Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-144997649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997649
    reference: chr 8
allele count: 1
allele frequency: 9.458232445520582e-6
allele num: 105728
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.6859G>A
  hgvsp: ENSP00000323856.4:p.Ala2287Thr
  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.6529G>A
  hgvsp: ENSP00000388180.2:p.Ala2177Thr
  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.6517G>A
  hgvsp: ENSP00000434583.1:p.Ala2173Thr
  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.6460G>A
  hgvsp: ENSP00000350277.2:p.Ala2154Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1086G>A
  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.6448G>A
  hgvsp: ENSP00000344848.3:p.Ala2150Thr
  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.6448G>A
  hgvsp: ENSP00000346602.3:p.Ala2150Thr
  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.6352G>A
  hgvsp: ENSP00000381756.2:p.Ala2118Thr
  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.6382G>A
  hgvsp: ENSP00000347044.2:p.Ala2128Thr
  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.6406G>A
  hgvsp: ENSP00000348702.3:p.Ala2136Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2287Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144997651-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997651
    reference: chr 8
allele count: 3
allele frequency: 2.83661119515885e-5
allele num: 105760
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.6380G>C
  hgvsp: ENSP00000347044.2:p.Arg2127Pro
  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.6515G>C
  hgvsp: ENSP00000434583.1:p.Arg2172Pro
  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.6446G>C
  hgvsp: ENSP00000344848.3:p.Arg2149Pro
  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.6527G>C
  hgvsp: ENSP00000388180.2:p.Arg2176Pro
  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.6404G>C
  hgvsp: ENSP00000348702.3:p.Arg2135Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1088G>C
  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.6458G>C
  hgvsp: ENSP00000350277.2:p.Arg2153Pro
  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.6857G>C
  hgvsp: ENSP00000323856.4:p.Arg2286Pro
  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.6350G>C
  hgvsp: ENSP00000381756.2:p.Arg2117Pro
  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.6446G>C
  hgvsp: ENSP00000346602.3:p.Arg2149Pro
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg2286Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

8-144997651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997651
    reference: chr 8
allele count: 3
allele frequency: 2.83661119515885e-5
allele num: 105760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1088G>A
  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.6446G>A
  hgvsp: ENSP00000344848.3:p.Arg2149Gln
  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.6515G>A
  hgvsp: ENSP00000434583.1:p.Arg2172Gln
  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.6458G>A
  hgvsp: ENSP00000350277.2:p.Arg2153Gln
  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.6404G>A
  hgvsp: ENSP00000348702.3:p.Arg2135Gln
  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.6446G>A
  hgvsp: ENSP00000346602.3:p.Arg2149Gln
  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.6380G>A
  hgvsp: ENSP00000347044.2:p.Arg2127Gln
  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.6857G>A
  hgvsp: ENSP00000323856.4:p.Arg2286Gln
  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.6350G>A
  hgvsp: ENSP00000381756.2:p.Arg2117Gln
  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.6527G>A
  hgvsp: ENSP00000388180.2:p.Arg2176Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Arg2286Gln
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

8-144997654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144997654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144997654
    reference: chr 8
allele count: 8
allele frequency: 7.557864903164856e-5
allele num: 105850
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.6512G>A
  hgvsp: ENSP00000434583.1:p.Arg2171Gln
  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.6455G>A
  hgvsp: ENSP00000350277.2:p.Arg2152Gln
  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.6377G>A
  hgvsp: ENSP00000347044.2:p.Arg2126Gln
  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.6854G>A
  hgvsp: ENSP00000323856.4:p.Arg2285Gln
  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.6347G>A
  hgvsp: ENSP00000381756.2:p.Arg2116Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.135-1091G>A
  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.6443G>A
  hgvsp: ENSP00000344848.3:p.Arg2148Gln
  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.6524G>A
  hgvsp: ENSP00000388180.2:p.Arg2175Gln
  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.6443G>A
  hgvsp: ENSP00000346602.3:p.Arg2148Gln
  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.6401G>A
  hgvsp: ENSP00000348702.3:p.Arg2134Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2285Gln
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 467
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1307
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25043
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.287001287001287e-4
allele num: 7770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 1.596e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.319057e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

GenotypeQuality
all individuals: 1346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
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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African
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.701143168209037e-5
allele num: 58784
num of homozygotes: 0

East Asian
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Latino
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BaseQRankSum
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SIO_000300: 1.13e0

VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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African
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Other
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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

East Asian
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allele frequency: 3.766951280763436e-4
allele num: 7964
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Latino
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allele frequency: 9.349289454001496e-5
allele num: 10696
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.702359470225733e-5
allele num: 58742
num of homozygotes: 0

MQ
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ReadPosRankSum
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QD
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DP
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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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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num of homozygotes: 0

African
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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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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 frequency: 1.702359470225733e-5
allele num: 58742
num of homozygotes: 0

ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.300052002080083e-4
allele num: 7692
num of homozygotes: 0

South 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: 1
allele frequency: 1.703171304969854e-5
allele num: 58714
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.927e0

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.30718954248366e-4
allele num: 7650
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South Asian
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allele frequency: 4.537205081669691e-4
allele num: 15428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58550
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ReadPosRankSum
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SIO_000300: 1.35e0

ClippingRankSum
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SIO_000300: -1.299e0

FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.7e-3

MQ
type: SiteQuality
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VQSLOD
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DP
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QD
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SIO_000300: 1.428e1

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

European (Non-Finnish)
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East Asian
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allele num: 7924
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African
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South Asian
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allele num: 15402
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European (Finnish)
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Other
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Latino
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
type: Population
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Latino
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 2.906579127342361e-4
allele num: 58488
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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Latino
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allele frequency: 7.525870178739417e-4
allele num: 10630
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European (Finnish)
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MQRankSum
type: SiteQuality
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FS
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 21726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10966
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.517205422314912e-5
allele num: 15344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730043943116155e-5
allele num: 57802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.614e0

DP
type: SiteQuality
SIO_000300: 1.275481e6

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 1788
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3263
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1055
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 9.75e1
variant carriers: 140

GenotypeQuality
all individuals: 3793
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.978779840848806e-3
allele num: 754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 104
allele frequency: 1.7988100179881e-3
allele num: 57816
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.319261213720317e-3
allele num: 10612
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.282380097460887e-4
allele num: 7798
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.304631441617743e-3
allele num: 15330
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.280805e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 2028
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 973
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.524859715516116e-5
allele num: 15326
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
type: SiteQuality
SIO_000300: 1.265266e6

FS
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1495
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1783
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1490
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4033
bin: 9.75e1
variant carriers: 600

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 21292
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2428
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1413
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 449
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3381
bin: 3.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 276
allele frequency: 4.795663052543787e-3
allele num: 57552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

Latino
type: Population
allele count: 42
allele frequency: 3.965256797583082e-3
allele num: 10592
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.652519893899204e-3
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.956436676666232e-4
allele num: 15334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.430815258040389e-3
allele num: 5348
num of homozygotes: 0

African
type: Population
allele count: 290
allele frequency: 3.874933190807055e-2
allele num: 7484
num of homozygotes: 7

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.272204e6

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

QD
type: SiteQuality
SIO_000300: 1.356e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737076153418566e-5
allele num: 57568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.132999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.269347e6

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3446
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 21454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.523157208088715e-5
allele num: 15330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.474152306837132e-5
allele num: 57568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.339764201500536e-4
allele num: 7464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.352e1

DP
type: SiteQuality
SIO_000300: 1.269347e6

FS
type: SiteQuality
SIO_000300: 9.132999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
all individuals: 1530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.542789845590159e-5
allele num: 15284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740704637237154e-5
allele num: 57448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.272525e6

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.740704637237154e-5
allele num: 57448
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.272525e6

FS
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SIO_000300: 5.629999999999999e-1

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

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

Latino
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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 15310
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Other
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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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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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele num: 7480
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

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

South Asian
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allele frequency: 1.958480219349785e-4
allele num: 15318
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African
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East Asian
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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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MQ
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.0441e1

BaseQRankSum
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SIO_000300: 3.54e0

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

African
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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 count: 2
allele frequency: 3.466564980760565e-5
allele num: 57694
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Other
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European (Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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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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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57674
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Other
type: Population
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Latino
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allele frequency: 9.391435011269723e-5
allele num: 10648
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Other
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MQRankSum
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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Other
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: -6.69e-1

DP
type: SiteQuality
SIO_000300: 1.287695e6

GenotypeQuality
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737136504186499e-5
allele num: 57566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.291115e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
all individuals: 1479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73178165696869e-5
allele num: 57744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.298871e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.515e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 273
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24382
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variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727294711023595e-5
allele num: 57894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.268713524486171e-4
allele num: 7882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.317318e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

VQSLOD
type: SiteQuality
SIO_000300: -3.195e0

FS
type: SiteQuality
SIO_000300: 1.285e0

QD
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 3022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 24740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.793495878884023e-4
allele num: 57994
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.301574905635819e-4
allele num: 15366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.308166697813493e-3
allele num: 10702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.322372e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1236
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3451
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.363295880149813e-5
allele num: 10680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.183674879911532e-5
allele num: 57874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15348
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 1.328758e6

FS
type: SiteQuality
SIO_000300: 5.528e0

QD
type: SiteQuality
SIO_000300: 1.181e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
all individuals: 2992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.992e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.731e1

FS
type: SiteQuality
SIO_000300: 2.304e0

DP
type: SiteQuality
SIO_000300: 1.332535e6

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

GenotypeQuality
all individuals: 1270
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.332622601279318e-4
allele num: 7504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.345825e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 377
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
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GenotypeQuality
all individuals: 224
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30272
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.820584524093715e-5
allele num: 58646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.940993788819876e-4
allele num: 15456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.48941996514812e-4
allele num: 8034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.38277e6

FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 2.178e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

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
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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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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 832
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.407735559720566e-5
allele num: 58690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 1.2919e1

InbreedingCoeff
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SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.389982e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696928559307653e-5
allele num: 58930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.402756e6

FS
type: SiteQuality
SIO_000300: 7.319e0

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

GenotypeQuality
all individuals: 1735
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
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variant carriers: 0

GenotypeQuality
all individuals: 1085
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 9.75e1
variant carriers: 7

South Asian
type: Population
allele count: 6
allele frequency: 3.861997940267765e-4
allele num: 15536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.695720002713152e-5
allele num: 58972
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.412514e6

GenotypeQuality
all individuals: 1735
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
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variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 7.5e0
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GenotypeQuality
all individuals: 3467
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1085
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GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 834
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variant carriers: 0

GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
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GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 569
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GenotypeQuality
all individuals: 4124
bin: 6.75e1
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GenotypeQuality
all individuals: 33747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.391440005426304e-5
allele num: 58972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

FS
type: SiteQuality
SIO_000300: 1.754e0

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.412514e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8070
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 216
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 365
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variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.436663233779608e-5
allele num: 15536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

FS
type: SiteQuality
SIO_000300: 1.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.412514e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4277
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.1726288754357e-5
allele num: 10902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 1.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.741e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.415906e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 885
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GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59298
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 9.157509157509158e-4
allele num: 7644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0554e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.528999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 1.421048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

GenotypeDepth
all individuals: 454
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3560
bin: 9.75e1
variant carriers: 101

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1478
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7505
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35235
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.665017408832692e-4
allele num: 10914
num of homozygotes: 0

African
type: Population
allele count: 94
allele frequency: 1.229400993983782e-2
allele num: 7646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59326
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
type: SiteQuality
SIO_000300: 1.426454e6

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.5e0
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GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
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GenotypeQuality
all individuals: 7314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 1104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.837298541826554e-4
allele num: 15636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.426854e6

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 34894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.5e0
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GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
all individuals: 7314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 440
bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.615746795710175e-4
allele num: 7646
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.830161054172767e-4
allele num: 10928
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.426854e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 1280
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 4396
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variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.682085786375105e-5
allele num: 59450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.099e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 1.8064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 1.427573e6

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 781
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1585
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.743735138101335e-4
allele num: 10934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 7.460732984293194e-3
allele num: 7640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

DP
type: SiteQuality
SIO_000300: 1.429752e6

QD
type: SiteQuality
SIO_000300: 1.052e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 805
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 306
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variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 9.137426900584795e-5
allele num: 10944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.377551020408164e-5
allele num: 15680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.43031e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 4489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1714
bin: 7.5e0
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GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6941
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 306
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275510204081633e-4
allele num: 15680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.43031e6

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 4643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6603
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 365
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GenotypeQuality
all individuals: 1257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1951
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.183091418385536e-4
allele num: 15708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.685260709831811e-5
allele num: 59338
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.610259122157589e-4
allele num: 7564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.116e0

QD
type: SiteQuality
SIO_000300: 1.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.431608e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.056804773623706e-5
allele num: 59326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

DP
type: SiteQuality
SIO_000300: 1.431367e6

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.459999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.528231923141749e-4
allele num: 59330
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.27177921912756e-4
allele num: 15726
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.738203425375742e-4
allele num: 5722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.431674e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
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SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 76

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

South Asian
type: Population
allele count: 74
allele frequency: 4.703788456648868e-3
allele num: 15732
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.322051824431518e-4
allele num: 7564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.370748643273671e-5
allele num: 59334
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.538071065989848e-3
allele num: 788
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 1.439752e6

FS
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 34898
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.356470887363335e-5
allele num: 15732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.439752e6

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.73972602739726e-4
allele num: 10950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: -1.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

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

African
type: Population
allele count: 1
allele frequency: 1.349527665317139e-4
allele num: 7410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.342762907522517e-5
allele num: 15766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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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bin: 2.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.127418765972983e-5
allele num: 10956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710629853912211e-5
allele num: 58458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.225189904435187e-4
allele num: 8162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
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SIO_000300: 1.181e1

ReadPosRankSum
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SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

VQSLOD
type: SiteQuality
SIO_000300: -2.258e-1

DP
type: SiteQuality
SIO_000300: 1.417642e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.424188467333242e-5
allele num: 58408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.229709788489916e-4
allele num: 8132
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.26984126984127e-4
allele num: 15750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.522367030644593e-4
allele num: 5678
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.313e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.421439e6

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
all individuals: 1992
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.74423710208562e-4
allele num: 7288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.417554e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

FS
type: SiteQuality
SIO_000300: 4.607e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31215
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 960
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GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710922529427867e-5
allele num: 58448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.827e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.415647e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 7.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 3478
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1990
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GenotypeQuality
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GenotypeQuality
all individuals: 225
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GenotypeQuality
all individuals: 1563
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 4.268639726807058e-4
allele num: 7028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.501558774986246e-4
allele num: 10906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.735086927855086e-5
allele num: 57634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 8.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 1.407469e6

QD
type: SiteQuality
SIO_000300: 1.037e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 422
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.604890247290914e-4
allele num: 57584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.817520901490367e-4
allele num: 5502
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.835535976505139e-4
allele num: 10896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.265513733468973e-4
allele num: 15728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.242544731610338e-4
allele num: 8048
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.409665e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
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VQSLOD
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SIO_000300: 3.3e0

FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728070781779222e-5
allele num: 57868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.804402742692169e-4
allele num: 5542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.636e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.6e-3

ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3475
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.661e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.874e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.415025e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 4.58e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 26

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3177
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 2.627737226277372e-3
allele num: 6850
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.257545271629779e-4
allele num: 7952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.267223821897605e-5
allele num: 56956
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.759889604415823e-4
allele num: 10870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.429e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.415286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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variant carriers: 9

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.365372374283896e-5
allele num: 15710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.208103130755064e-5
allele num: 10860
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.50689395838556e-4
allele num: 7978
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.322751322751323e-3
allele num: 756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.998390370214851e-5
allele num: 57156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

FS
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.414975e6

GenotypeQuality
all individuals: 3771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1462
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variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.371049949031601e-5
allele num: 15696
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 9.962999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 7.54e0

DP
type: SiteQuality
SIO_000300: 1.416596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3541
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GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728668233992532e-5
allele num: 57848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.545e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.436773e6

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

QD
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SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1250
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.910828025477707e-4
allele num: 15700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.439502e6

QD
type: SiteQuality
SIO_000300: 1.3e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 1.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4610
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25281884239539e-4
allele num: 7982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.456977909911155e-5
allele num: 57854
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
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