8-145013672-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145013672
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145013672
    reference: chr 8
allele count: 1
allele frequency: 1.771102688533881e-5
allele num: 56462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.-43T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.17-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.125-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.113-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-812T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-812T>C
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-145013673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145013673
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145013673
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 55578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.113-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.17-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.-44G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.125-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-813G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-813G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23345
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

8-145013675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145013675
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145013675
    reference: chr 8
allele count: 1
allele frequency: 1.849728089970774e-5
allele num: 54062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.-46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.17-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.125-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.113-815C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-815C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-145016531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016531
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016531
    reference: chr 8
allele count: 6
allele frequency: 5.550929780738274e-5
allele num: 108090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2285A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3671A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1416A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+29A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3671A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-145016538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016538
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016538
    reference: chr 8
allele count: 1
allele frequency: 9.254974548819991e-6
allele num: 108050
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2278G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+22G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1409G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3678G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3678G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-145016540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016540
    reference: chr 8
allele count: 3
allele frequency: 2.778137906765692e-5
allele num: 107986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+20C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2276C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3680C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1407C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3680C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25754
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

8-145016540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016540
    reference: chr 8
allele count: 1
allele frequency: 9.260459689218973e-6
allele num: 107986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2276C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+20C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3680C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1407C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-145016553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016553
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016553
    reference: chr 8
allele count: 1
allele frequency: 9.301633366819213e-6
allele num: 107508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1394G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+7G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2263G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3693G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3693G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124+7G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-145016556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016556
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016556
    reference: chr 8
allele count: 1
allele frequency: 9.299211426871001e-6
allele num: 107536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+4G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3696G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2260G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1391G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3696G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124+4G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-145016559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016559
    reference: chr 8
allele count: 2
allele frequency: 1.863620268734043e-5
allele num: 107318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1388G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2257G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.124+1G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3699G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3699G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

8-145016567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016567
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016567
    reference: chr 8
allele count: 10
allele frequency: 9.408399819358724e-5
allele num: 106288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2249C>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.117C>T
  hgvsp: ENST00000357649.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1380C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3707C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3707C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys39Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-145016570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016570
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016570
    reference: chr 8
allele count: 1
allele frequency: 9.447152628197861e-6
allele num: 105852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3710G>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.114G>A
  hgvsp: ENST00000357649.2:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1377G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2246G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3710G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3710G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu38Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

8-145016572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016572
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016572
    reference: chr 8
allele count: 1
allele frequency: 9.472387989012029e-6
allele num: 105570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3712C>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.112C>G
  hgvsp: ENSP00000350277.2:p.Leu38Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2244C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1375C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3712C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3712C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu38Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-145016574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016574
    reference: chr 8
allele count: 1
allele frequency: 9.4801107276933e-6
allele num: 105484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1373A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3714A>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.110A>G
  hgvsp: ENSP00000350277.2:p.Gln37Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2242A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3714A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3714A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln37Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-145016577-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016577
    reference: chr 8
allele count: 1
allele frequency: 9.527075949849473e-6
allele num: 104964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3717A>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.107A>C
  hgvsp: ENSP00000350277.2:p.Gln36Pro
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2239A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1370A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3717A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3717A>C
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln36Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-145016579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016579
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016579
    reference: chr 8
allele count: 1
allele frequency: 9.563155076122714e-6
allele num: 104568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2237C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3719C>A
  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.105C>A
  hgvsp: ENSP00000350277.2:p.Tyr35Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1368C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3719C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3719C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr35Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-145016593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016593
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016593
    reference: chr 8
allele count: 1
allele frequency: 1.00357271887921e-5
allele num: 99644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2223A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3733A>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.91A>G
  hgvsp: ENSP00000350277.2:p.Arg31Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1354A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3733A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3733A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg31Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

8-145016596-GGGCCGGCTCGCAGCCCCCGTCCAGCCAGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016596
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016565
    reference: chr 8
allele count: 8
allele frequency: 8.156274213939073e-5
allele num: 98084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsp: ENSP00000350277.2:p.Cys20AlafsTer12
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys20AlafsTer12
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GGGCCGGCTCGCAGCCCCCGTCCAGCCAGCAC
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-145016600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016600
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016600
    reference: chr 8
allele count: 1
allele frequency: 1.031821371084238e-5
allele num: 96916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3740G>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.84G>A
  hgvsp: ENST00000357649.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2216G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1347G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3740G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3740G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-145016601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016601
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016601
    reference: chr 8
allele count: 6
allele frequency: 6.192973039924033e-5
allele num: 96884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1346C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3741C>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.83C>T
  hgvsp: ENSP00000350277.2:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3741C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2215C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3741C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20620
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-145016602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016602
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016602
    reference: chr 8
allele count: 4
allele frequency: 4.147828611721764e-5
allele num: 96436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1345C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2214C>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.82C>G
  hgvsp: ENSP00000350277.2:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3742C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3742C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-145016604-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016604
    reference: chr 8
allele count: 1
allele frequency: 1.042035720984515e-5
allele num: 95966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2212A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1343A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3744A>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.80A>T
  hgvsp: ENSP00000350277.2:p.Glu27Val
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3744A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3744A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-145016605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016605
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016605
    reference: chr 8
allele count: 1
allele frequency: 1.056769666483493e-5
allele num: 94628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3745G>A
  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.79G>A
  hgvsp: ENSP00000350277.2:p.Glu27Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2211G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1342G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3745G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3745G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

8-145016609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016609
    reference: chr 8
allele count: 1
allele frequency: 1.068467390375246e-5
allele num: 93592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2207C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3749C>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.75C>T
  hgvsp: ENST00000357649.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1338C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3749C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3749C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly25Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-145016610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016610
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016610
    reference: chr 8
allele count: 11
allele frequency: 1.175590467030031e-4
allele num: 93570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3750G>A
  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.74G>A
  hgvsp: ENSP00000350277.2:p.Gly25Asp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2206G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1337G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3750G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3750G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18770
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly25Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-145016611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016611
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016611
    reference: chr 8
allele count: 1
allele frequency: 1.078329882677709e-5
allele num: 92736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3751G>A
  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.73G>A
  hgvsp: ENSP00000350277.2:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2205G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1336G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3751G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3751G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly25Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-145016614-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016614
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016614
    reference: chr 8
allele count: 1
allele frequency: 1.087216508295462e-5
allele num: 91978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2202G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1333G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3754G>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.70G>T
  hgvsp: ENSP00000350277.2:p.Gly24Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3754G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3754G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly24Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-145016615-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016615
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016615
    reference: chr 8
allele count: 1
allele frequency: 1.093493712411154e-5
allele num: 91450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3755C>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.69C>G
  hgvsp: ENSP00000350277.2:p.Asp23Glu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1332C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3755C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2201C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3755C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp23Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

8-145016617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016617
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016617
    reference: chr 8
allele count: 1
allele frequency: 1.108377114229345e-5
allele num: 90222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2199G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3757G>A
  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.67G>A
  hgvsp: ENSP00000350277.2:p.Asp23Asn
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3757G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1330G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp23Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-145016631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016631
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016631
    reference: chr 8
allele count: 4
allele frequency: 4.837578308298865e-5
allele num: 82686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2185G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3771G>A
  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.53G>A
  hgvsp: ENSP00000350277.2:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3771G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1316G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3771G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg18Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

8-145016632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016632
    reference: chr 8
allele count: 2
allele frequency: 2.467186420605941e-5
allele num: 81064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1315C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3772C>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.52C>T
  hgvsp: ENSP00000350277.2:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2184C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3772C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3772C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-145016637-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016637
    reference: chr 8
allele count: 1
allele frequency: 1.263615456544264e-5
allele num: 79138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3777T>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.47T>G
  hgvsp: ENSP00000350277.2:p.Leu16Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2179T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3777T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1310T>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3777T>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu16Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

8-145016644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016644
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016644
    reference: chr 8
allele count: 11
allele frequency: 1.545464763403394e-4
allele num: 71176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3784G>A
  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.40G>A
  hgvsp: ENSP00000350277.2:p.Val14Ile
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1303G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2172G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3784G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3784G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16442
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Val14Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

8-145016654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016654
    reference: chr 8
allele count: 5
allele frequency: 7.922172576607409e-5
allele num: 63114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1293G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2162G>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.30G>A
  hgvsp: ENST00000357649.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3794G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3794G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser10Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-145016655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016655
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016655
    reference: chr 8
allele count: 1
allele frequency: 1.608130708864017e-5
allele num: 62184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3795C>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.29C>T
  hgvsp: ENSP00000350277.2:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1292C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2161C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3795C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3795C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser10Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-145016657-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016657
    reference: chr 8
allele count: 329
allele frequency: 5.46984105872182e-3
allele num: 60148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2159C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1290C>G
  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.27C>G
  hgvsp: ENST00000357649.2:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3797C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3797C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 1.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16950
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala9Ala
num of homozygotes: 2
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

8-145016666-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016667
    reference: chr 8
allele count: 1
allele frequency: 2.101811761738619e-5
allele num: 47578
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3807_194-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3807_71-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3807_194-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.17_18insA
  hgvsp: ENSP00000350277.2:p.Ala7ArgfsTer37
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3807_47-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3807_44-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1280_112+1281insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3807_194-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3807_164-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3807_-170-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2149_16+2150insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3807_524-3806insA
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3807_44-3806insA
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala7ArgfsTer37
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-145016668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016668
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016668
    reference: chr 8
allele count: 5
allele frequency: 1.054407423028258e-4
allele num: 47420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2148G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3808G>A
  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.16G>A
  hgvsp: ENSP00000350277.2:p.Gly6Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1279G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3808G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3808G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-145016669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016669
    reference: chr 8
allele count: 9
allele frequency: 1.892107808098221e-4
allele num: 47566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1278G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3809G>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.15G>T
  hgvsp: ENST00000357649.2:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3809G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2147G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21072
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly5Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-145016672-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016672
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016672
    reference: chr 8
allele count: 2
allele frequency: 4.364144191324081e-5
allele num: 45828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.12G>C
  hgvsp: ENST00000357649.2:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2144G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1275G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3812G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3812G>C
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala4Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-145016678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016678
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016678
    reference: chr 8
allele count: 7
allele frequency: 1.691066338116635e-4
allele num: 41394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2138G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1269G>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.6G>A
  hgvsp: ENST00000357649.2:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3818G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3818G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-145016686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016686
    reference: chr 8
allele count: 5
allele frequency: 1.589724023909449e-4
allele num: 31452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1261G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.44-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2130G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3826G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19402
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

8-145016692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016692
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016692
    reference: chr 8
allele count: 5
allele frequency: 1.757345705047097e-4
allele num: 28452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2124G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-170-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.-9G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3826G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1255G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3832G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3832G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19145
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

8-145016711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016711
    reference: chr 8
allele count: 45
allele frequency: 2.287980475899939e-3
allele num: 19668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3807C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2105C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3842C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3851C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1236C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3851C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25400
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-145016714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016714
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 18766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3839G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2102G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1233G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3854G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3804G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/8-145016716-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016716
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016716
    reference: chr 8
allele count: 1
allele frequency: 5.768343331795108e-5
allele num: 17336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1231G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3802G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3837G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3856G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2100G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3856G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-145016720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016720
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016720
    reference: chr 8
allele count: 1
allele frequency: 5.970862192500597e-5
allele num: 16748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3833G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3798G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2096G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3860G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1227G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

8-145016725-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016725
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016725
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 15080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3793G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2091G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3828G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3865G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1222G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3865G>C
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-145016725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145016725
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145016725
    reference: chr 8
allele count: 1
allele frequency: 6.63129973474801e-5
allele num: 15080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+3828G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+2091G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-3865G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+3793G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+1222G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-3865G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

8-145017897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017897
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017897
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 65336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2656G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+919G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2621G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5037G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5037G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-145017898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017898
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017898
    reference: chr 8
allele count: 3
allele frequency: 4.54063871651279e-5
allele num: 66070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2620C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+918C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2655C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+49C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5038C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5038C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

8-145017900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017900
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017900
    reference: chr 8
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2653G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+47G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+916G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5040G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2618G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5040G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

8-145017902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017902
    reference: chr 8
allele count: 1
allele frequency: 1.492492761410107e-5
allele num: 67002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+45G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+914G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2616G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2651G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5042G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5042G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-145017906-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017906
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017906
    reference: chr 8
allele count: 2
allele frequency: 2.952814031772279e-5
allele num: 67732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+41A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2612A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2647A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5046A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+910A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-145017907-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017907
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017906
    reference: chr 8
allele count: 1
allele frequency: 1.473491881059735e-5
allele num: 67866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+908delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2610delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2645delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5048delG
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+39delG
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GC
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

8-145017911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017911
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017911
    reference: chr 8
allele count: 1
allele frequency: 1.445044940897662e-5
allele num: 69202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2607G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2642G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+905G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5051G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5051G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-145017911-CGCCTCGAGTCCCTGGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017911
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017894
    reference: chr 8
allele count: 1
allele frequency: 1.445044940897662e-5
allele num: 69202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: CGCCTCGAGTCCCTGGCA
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-145017912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017912
    reference: chr 8
allele count: 24
allele frequency: 3.455425017277125e-4
allele num: 69456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+904C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+35C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2606C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2641C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5052C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5052C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16822
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

8-145017912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017912
    reference: chr 8
allele count: 6
allele frequency: 8.638562543192812e-5
allele num: 69456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2606C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2641C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+904C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5052C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+35C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16822
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-145017917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017917
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017917
    reference: chr 8
allele count: 1
allele frequency: 1.383470296892726e-5
allele num: 72282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+899C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2636C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5057C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2601C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5057C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

8-145017917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017917
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017917
    reference: chr 8
allele count: 2
allele frequency: 2.766940593785451e-5
allele num: 72282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+30C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+899C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2636C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5057C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2601C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5057C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-145017920-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017920
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017920
    reference: chr 8
allele count: 3
allele frequency: 4.020693167502077e-5
allele num: 74614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+896A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2633A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+27A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2598A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5060A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5060A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-145017932-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017932
    reference: chr 8
allele count: 1
allele frequency: 1.153109937501441e-5
allele num: 86722
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2621T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+884T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+15T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2586T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5072T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5072T>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-145017937-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017937
    reference: chr 8
allele count: 208
allele frequency: 2.272627944582842e-3
allele num: 91524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2616G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2581G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+879G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5077G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+10G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-145017937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017937
    reference: chr 8
allele count: 3
allele frequency: 3.277828766225252e-5
allele num: 91524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2616G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2581G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+879G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+10G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5077G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5077G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-145017938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017938
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145017938
    reference: chr 8
allele count: 1
allele frequency: 1.077632656580025e-5
allele num: 92796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000437303
  ensembl transcript: ENST00000528025
  gene symbol: PLEC
  hgvsc: ENST00000528025.1:c.194-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.194-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.194-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433557
  ensembl transcript: ENST00000526416
  gene symbol: PLEC
  hgvsc: ENST00000526416.1:c.43+2580C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl transcript: ENST00000532346
  gene symbol: PLEC
  hgvsc: ENST00000532346.1:n.44-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000436702
  ensembl transcript: ENST00000528131
  gene symbol: PLEC
  hgvsc: ENST00000528131.1:c.164-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.524-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.112+9C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.16+878C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434490
  ensembl transcript: ENST00000527816
  gene symbol: PLEC
  hgvsc: ENST00000527816.1:c.-171+2615C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.47-5078C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.71-5078C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145017939-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145017939
    reference: chr 8
allele count: 1
allele frequency: 1.065893538553369e-5
allele num: 93818
alternate allele: C
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
hgvs: c.112+8C>G
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1186
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16897
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 648
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5094
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.336002135041366e-5
allele num: 29976
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.13e-2

BaseQRankSum
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SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.605e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29474
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.682e1

BaseQRankSum
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SIO_000300: 7.2e-1

ClippingRankSum
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SIO_000300: -7.2e-1

InbreedingCoeff
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MQRankSum
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DP
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FS
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3720
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: 0.0e0
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num of homozygotes: 0

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

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 num: 4524
num of homozygotes: 0

Other
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num of homozygotes: 0

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.58e0

MQ
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SIO_000300: 6.0e1

DP
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MQRankSum
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SIO_000300: -7.31e-1

QD
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ReadPosRankSum
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SIO_000300: 2.96e-1

VQSLOD
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SIO_000300: 6.58e-1

InbreedingCoeff
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SIO_000300: -2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 2017
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

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

South Asian
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allele count: 6
allele frequency: 3.818737270875764e-4
allele num: 15712
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.189e0

FS
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SIO_000300: 1.548e0

ReadPosRankSum
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SIO_000300: 6.899999999999999e-1

InbreedingCoeff
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SIO_000300: -1.0e-3

MQRankSum
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DP
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VQSLOD
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MQ
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SIO_000300: 5.945e1

QD
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ClippingRankSum
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SIO_000300: 1.12e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 9.099181073703367e-5
allele num: 10990
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59136
num of homozygotes: 0

QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.385125757421888e-5
allele num: 59082
num of homozygotes: 0

African
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allele frequency: 1.361285053090117e-4
allele num: 7346
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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ReadPosRankSum
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SIO_000300: -1.58e-1

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.692562878710944e-5
allele num: 59082
num of homozygotes: 0

Latino
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 7501
bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.698254194687861e-5
allele num: 58884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

MQRankSum
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SIO_000300: 3.91e-1

ClippingRankSum
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SIO_000300: -1.55e0

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.443928e6

VQSLOD
type: SiteQuality
SIO_000300: -3.357e-1

BaseQRankSum
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SIO_000300: 2.04e-1

ReadPosRankSum
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SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.698658060132495e-5
allele num: 58870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.858e1

FS
type: SiteQuality
SIO_000300: 2.498e0

ClippingRankSum
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SIO_000300: 1.04e0

MQRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.922e0

InbreedingCoeff
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SIO_000300: -5.0e-3

DP
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SIO_000300: 1.443219e6

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

ReadPosRankSum
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SIO_000300: -1.04e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

East Asian
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allele count: 2
allele frequency: 2.461841457410143e-4
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58754
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.439604e6

QD
type: SiteQuality
SIO_000300: 9.41e0

MQRankSum
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SIO_000300: 1.79e0

InbreedingCoeff
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SIO_000300: -5.1e-3

ClippingRankSum
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SIO_000300: 3.91e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: -4.621e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 3.769e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7260
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GenotypeQuality
all individuals: 667
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variant carriers: 10

Latino
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allele count: 10
allele frequency: 9.203018590097553e-4
allele num: 10866
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58250
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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SIO_000300: 1.391e1

DP
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SIO_000300: 1.424696e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.216589861751152e-5
allele num: 10850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58022
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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DP
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729684851420071e-5
allele num: 57814
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.75e1

MQRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730882403849482e-5
allele num: 57774
num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQ
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.301e0

InbreedingCoeff
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SIO_000300: -6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

DP
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SIO_000300: 1.403143e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.739069945393204e-5
allele num: 57502
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: -6.15e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.46830530401035e-5
allele num: 15460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57280
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
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FS
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SIO_000300: 3.111e0

VQSLOD
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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SIO_000300: -6.2e-3

ReadPosRankSum
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SIO_000300: -1.616e0

QD
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SIO_000300: 6.42e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.83304615610221e-5
allele num: 54554
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.7e-3

MQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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SIO_000300: 2.255e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
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SIO_000300: -6.264e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.489147835151335e-4
allele num: 53722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.301e0

MQRankSum
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SIO_000300: -3.703e0

BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -7.42e-1

QD
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SIO_000300: 6.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53128
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 6094
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.754018641091449e-5
allele num: 14806
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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Latino
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allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.531821947729155e-5
allele num: 53108
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South Asian
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African
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allele num: 6094
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European (Finnish)
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allele count: 0
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VQSLOD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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African
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Latino
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East Asian
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allele frequency: 5.284015852047556e-4
allele num: 7570
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European (Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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SIO_000300: -7.4e-3

QD
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SIO_000300: 1.262e1

ClippingRankSum
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SIO_000300: -4.69e-1

VQSLOD
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SIO_000300: 1.19e0

ReadPosRankSum
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SIO_000300: 9.55e-1

DP
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SIO_000300: 1.253873e6

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.782419967444384e-5
allele num: 14744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

East Asian
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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: 4276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.242851e6

BaseQRankSum
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SIO_000300: -2.302e0

QD
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VQSLOD
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FS
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MQRankSum
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MQ
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SIO_000300: 5.971e1

ClippingRankSum
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SIO_000300: -1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.926262665177024e-5
allele num: 51914
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.254e1

VQSLOD
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SIO_000300: -2.798e0

FS
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SIO_000300: 1.412e1

ClippingRankSum
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SIO_000300: 6.78e-1

ReadPosRankSum
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SIO_000300: -1.034e0

BaseQRankSum
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SIO_000300: -1.769e0

DP
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SIO_000300: 1.222437e6

MQRankSum
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SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.949317738791423e-5
allele num: 51300
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

African
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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: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -2.01e-1

VQSLOD
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SIO_000300: 3.13e-1

MQRankSum
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SIO_000300: -3.61e-1

BaseQRankSum
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SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 1.205528e6

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 4718
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.114036864492607e-3
allele num: 9874
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51316
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.07e-1

BaseQRankSum
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.730702665282105e-4
allele num: 5778
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4078
num of homozygotes: 0

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

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

DP
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SIO_000300: 1.186646e6

BaseQRankSum
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FS
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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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ClippingRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.983654685392367e-5
allele num: 50412
num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

African
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.520161290322581e-4
allele num: 3968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 3.358e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.167229e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.221e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.092198581560284e-5
allele num: 14100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.141146e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

MQRankSum
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SIO_000300: -6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

BaseQRankSum
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SIO_000300: -3.96e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.849165966107695e-5
allele num: 45202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.782e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

DP
type: SiteQuality
SIO_000300: 1.012826e6

QD
type: SiteQuality
SIO_000300: 1.119e1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
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SIO_000300: -1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.256012272706763e-5
allele num: 44326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.60926939169617e-4
allele num: 6214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
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SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
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SIO_000300: -1.898e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.45e0

DP
type: SiteQuality
SIO_000300: 9.95453e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.633587786259542e-5
allele num: 13100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

FS
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ClippingRankSum
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SIO_000300: -1.13e0

BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.28e0

MQ
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SIO_000300: 5.925e1

DP
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SIO_000300: 9.56268e5

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38654
num of homozygotes: 0

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

African
type: Population
allele count: 11
allele frequency: 2.625298329355609e-3
allele num: 4190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.5e-2

ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
type: Population
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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: 5
allele frequency: 1.472754050073638e-4
allele num: 33950
num of homozygotes: 0

South 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
allele num: 6196
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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MQ
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QD
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.169197396963124e-4
allele num: 4610
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 11842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.4178e5

VQSLOD
type: SiteQuality
SIO_000300: -4.104e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeDepth
all individuals: 9
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variant carriers: 3

GenotypeDepth
all individuals: 357
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 557
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29698
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2642
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7960
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 774
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 4

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 5

GenotypeQuality
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bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 6688
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 874
bin: 9.75e1
variant carriers: 290

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 12

Latino
type: Population
allele count: 6
allele frequency: 1.02424035506999e-3
allele num: 5858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 1.495327102803738e-2
allele num: 2140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 276
allele frequency: 8.575156900515753e-3
allele num: 32186
num of homozygotes: 2

African
type: Population
allele count: 4
allele frequency: 1.16822429906542e-3
allele num: 3424
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.28310502283105e-3
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.567511994516792e-4
allele num: 11672
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

QD
type: SiteQuality
SIO_000300: 1.066e1

DP
type: SiteQuality
SIO_000300: 7.20825e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeDepth
all individuals: 28
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4006
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 584
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variant carriers: 1

GenotypeQuality
all individuals: 1815
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.313743637204998e-4
allele num: 4322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.639e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 6.33214e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1897
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variant carriers: 1

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 1020
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variant carriers: 0

GenotypeQuality
all individuals: 1131
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28137
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 585
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2040
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variant carriers: 0

GenotypeQuality
all individuals: 10974
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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
all individuals: 1813
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 211
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variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.679019277559423e-4
allele num: 10686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.911e-1

DP
type: SiteQuality
SIO_000300: 6.25376e5

FS
type: SiteQuality
SIO_000300: 5.858e0

QD
type: SiteQuality
SIO_000300: 8.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
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variant carriers: 0

GenotypeDepth
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 10980
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variant carriers: 0

GenotypeQuality
all individuals: 1774
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1074
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variant carriers: 1

GenotypeQuality
all individuals: 28657
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GenotypeQuality
all individuals: 1751
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 791
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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
all individuals: 194
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 588
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
all individuals: 4396
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.956830277942046e-4
allele num: 3382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.351037965214139e-5
allele num: 10694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.815541790684579e-4
allele num: 24862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4423e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

DP
type: SiteQuality
SIO_000300: 6.23668e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

GenotypeDepth
all individuals: 14227
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 6
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GenotypeQuality
all individuals: 1037
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GenotypeQuality
all individuals: 11522
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GenotypeQuality
all individuals: 942
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4339
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 632
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GenotypeQuality
all individuals: 1614
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 576
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GenotypeQuality
all individuals: 1004
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GenotypeQuality
all individuals: 294
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.896453631708705e-4
allele num: 10546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2639e1

QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
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SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 6.13207e5

GenotypeDepth
all individuals: 1360
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1525
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 92
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 2.508960573476703e-3
allele num: 2790
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 5.79167e5

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 5.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeDepth
all individuals: 9984
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variant carriers: 4

GenotypeDepth
all individuals: 84
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variant carriers: 0

GenotypeDepth
all individuals: 6
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GenotypeQuality
all individuals: 18018
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GenotypeQuality
all individuals: 580
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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
all individuals: 368
bin: 3.75e1
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GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 91
bin: 5.25e1
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GenotypeQuality
all individuals: 73
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 98
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 936
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 2.030456852791878e-3
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.47332988089073e-5
allele num: 15448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.34e-2

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 5.06593e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1852
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 2.415458937198068e-3
allele num: 1656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.307804735457468e-5
allele num: 13684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.938e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.61e-2

DP
type: SiteQuality
SIO_000300: 4.83273e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeDepth
all individuals: 119
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1323
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13252
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 45

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2007
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 685
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2276
bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 44
allele frequency: 5.409392672731743e-3
allele num: 8134
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.008064516129032e-3
allele num: 992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.9721e5

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.03e-2

FS
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 687
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 11652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 3.82998e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.171e0

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 1932
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variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3051
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25965
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.400560224089636e-3
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.65833e5

FS
type: SiteQuality
SIO_000300: 2.251e0

MQ
type: SiteQuality
SIO_000300: 5.645e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.560000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.933e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeDepth
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25960
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 6.75e1
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GenotypeQuality
all individuals: 551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527650473571647e-4
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.619999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.56659e5

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeDepth
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 676
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4367
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.38803e5

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 3.091e0

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.58e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3814
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.024096385542169e-3
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 3.091e0

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.38803e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.58e-2

GenotypeDepth
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

DP
type: SiteQuality
SIO_000300: 9.06555e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.105e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 4.73e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.747101807592989e-5
allele num: 36402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.583280557314756e-4
allele num: 12632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.11111e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.1047e1

QD
type: SiteQuality
SIO_000300: 9.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 9.68e-1

VQSLOD
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SIO_000300: -1.478e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 5326
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 209
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.74423710208562e-5
allele num: 36440
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 9.14161e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

QD
type: SiteQuality
SIO_000300: 5.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 135
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36950
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.895152376440866e-5
allele num: 12666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 9.22457e5

VQSLOD
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SIO_000300: -1.83e0

FS
type: SiteQuality
SIO_000300: 5.869e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 4.66e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4906
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.363655867839519e-5
allele num: 37288
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2180
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12762
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.674082789603166e-5
allele num: 37396
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 124
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.619446772841576e-5
allele num: 38176
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

East Asian
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MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.12e0

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

East Asian
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African
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allele frequency: 0.0e0
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Latino
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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: 1
allele frequency: 2.619446772841576e-5
allele num: 38176
num of homozygotes: 0

Other
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South Asian
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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SIO_000300: -1.98e-1

InbreedingCoeff
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SIO_000300: 1.35e-2

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 2.087900615930682e-4
allele num: 38316
num of homozygotes: 0

Other
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East Asian
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South Asian
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allele frequency: 1.242043160999845e-3
allele num: 12882
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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QD
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GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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Other
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East Asian
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allele frequency: 1.325088339222615e-3
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African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele num: 4806
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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South Asian
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele num: 13084
num of homozygotes: 0

Latino
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allele frequency: 2.901915264074289e-4
allele num: 6892
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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African
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European (Non-Finnish)
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Other
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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MQRankSum
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 7.286505392013991e-5
allele num: 41172
num of homozygotes: 0

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

Other
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South Asian
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African
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European (Finnish)
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FS
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.083333333333333e-5
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South Asian
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African
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European (Finnish)
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 530
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28592
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 811
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 201
allele frequency: 3.164357682619647e-2
allele num: 6352
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 7.522028798624544e-4
allele num: 9306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6790
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.284767e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

GenotypeDepth
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5202
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 419
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.574307304785894e-4
allele num: 6352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.951163617685408e-5
allele num: 50618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.284767e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeDepth
all individuals: 394
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.947798987144527e-5
allele num: 51340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 1.298476e6

VQSLOD
type: SiteQuality
SIO_000300: -5.786e-1

QD
type: SiteQuality
SIO_000300: 7.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1