http://identifiers.org/exac.variant/2-28828767-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828767
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-596A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3009A>C
  hgvsp: ENST00000327757.5:c.3009A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2972A>C
  hgvsp: ENST00000404858.1:c.2972A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-596A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.2976A>C
  hgvsp: ENST00000422425.2:c.2976A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.81A>C
  hgvsp: ENST00000444257.1:c.81A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-596A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1003Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-28828771-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828771
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3013C>A
  hgvsp: ENSP00000330442.5:p.Gln1005Lys
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.85C>A
  hgvsp: ENSP00000391810.1:p.Gln29Lys
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.2980C>A
  hgvsp: ENSP00000416440.2:p.Gln994Lys
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-592C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-592C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2976C>A
  hgvsp: ENSP00000384187.1:p.Gln993Lys
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-592C>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1005Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-28828784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828784
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828784
    reference: chr 2
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.98C>T
  hgvsp: ENSP00000391810.1:p.Ser33Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-579C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3026C>T
  hgvsp: ENSP00000330442.5:p.Ser1009Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.2993C>T
  hgvsp: ENSP00000416440.2:p.Ser998Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-579C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2989C>T
  hgvsp: ENSP00000384187.1:p.Ser997Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-579C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39700
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1009Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-28828786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828786
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2991C>T
  hgvsp: ENSP00000384187.1:p.Gln998Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3028C>T
  hgvsp: ENSP00000330442.5:p.Gln1010Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-577C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.2995C>T
  hgvsp: ENSP00000416440.2:p.Gln999Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-577C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.100C>T
  hgvsp: ENSP00000391810.1:p.Gln34Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-577C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39699
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln1010Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-28828790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828790
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.2999T>C
  hgvsp: ENSP00000416440.2:p.Leu1000Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3032T>C
  hgvsp: ENSP00000330442.5:p.Leu1011Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-573T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.104T>C
  hgvsp: ENSP00000391810.1:p.Leu35Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2995T>C
  hgvsp: ENSP00000384187.1:p.Leu999Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-573T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-573T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1011Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-28828794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828794
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.2999C>T
  hgvsp: ENST00000404858.1:c.2999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-569C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3036C>T
  hgvsp: ENST00000327757.5:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.108C>T
  hgvsp: ENST00000444257.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-569C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-569C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3003C>T
  hgvsp: ENST00000422425.2:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1012Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-28828798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828798
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-565G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3003G>A
  hgvsp: ENSP00000384187.1:p.Ala1002Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-565G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3007G>A
  hgvsp: ENSP00000416440.2:p.Ala1003Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.112G>A
  hgvsp: ENSP00000391810.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3040G>A
  hgvsp: ENSP00000330442.5:p.Ala1014Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-565G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1014Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-28828799-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828799
    reference: chr 2
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3008C>A
  hgvsp: ENSP00000416440.2:p.Ala1003Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-564C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3041C>A
  hgvsp: ENSP00000330442.5:p.Ala1014Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3004C>A
  hgvsp: ENSP00000384187.1:p.Ala1002Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.113C>A
  hgvsp: ENSP00000391810.1:p.Ala38Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-564C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-564C>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39696
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1014Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-28828801-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828802
    reference: chr 2
allele count: 5
allele frequency: 4.125412541254125e-5
allele num: 121200
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-559dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3013dupT
  hgvsp: ENSP00000416440.2:p.Trp1005LeufsTer6
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3009dupT
  hgvsp: ENSP00000384187.1:p.Trp1004LeufsTer6
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-559dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3046dupT
  hgvsp: ENSP00000330442.5:p.Trp1016LeufsTer6
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-559dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.118dupT
  hgvsp: ENSP00000391810.1:p.Trp40LeufsTer6
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39695
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8998
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp1016LeufsTer6
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-28828804-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828804
    reference: chr 2
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-559T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3013T>G
  hgvsp: ENSP00000416440.2:p.Trp1005Gly
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3009T>G
  hgvsp: ENSP00000384187.1:p.Trp1004Gly
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-559T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.118T>G
  hgvsp: ENSP00000391810.1:p.Trp40Gly
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3046T>G
  hgvsp: ENSP00000330442.5:p.Trp1016Gly
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-559T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp1016Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-28828807-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828807
    reference: chr 2
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.121A>C
  hgvsp: ENSP00000391810.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3049A>C
  hgvsp: ENSP00000330442.5:p.Thr1017Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-556A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3016A>C
  hgvsp: ENSP00000416440.2:p.Thr1006Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3012A>C
  hgvsp: ENSP00000384187.1:p.Thr1005Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-556A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-556A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1017Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-28828813-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828813
    reference: chr 2
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3018A>C
  hgvsp: ENSP00000384187.1:p.Met1007Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3022A>C
  hgvsp: ENSP00000416440.2:p.Met1008Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.127A>C
  hgvsp: ENSP00000391810.1:p.Met43Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-550A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3055A>C
  hgvsp: ENSP00000330442.5:p.Met1019Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-550A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-550A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1019Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-28828814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828814
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.128T>C
  hgvsp: ENSP00000391810.1:p.Met43Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-549T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-549T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3019T>C
  hgvsp: ENSP00000384187.1:p.Met1007Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-549T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3023T>C
  hgvsp: ENSP00000416440.2:p.Met1008Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3056T>C
  hgvsp: ENSP00000330442.5:p.Met1019Thr
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1019Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-28828814-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828814
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3019T>G
  hgvsp: ENSP00000384187.1:p.Met1007Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-549T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-549T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3056T>G
  hgvsp: ENSP00000330442.5:p.Met1019Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.128T>G
  hgvsp: ENSP00000391810.1:p.Met43Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3023T>G
  hgvsp: ENSP00000416440.2:p.Met1008Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-549T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1019Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-28828816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828816
    reference: chr 2
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+1G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-547G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+1G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-547G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-547G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+1G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: c.3057+1G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-28828824-A-AGTGGGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828831
    reference: chr 2
allele count: 6
allele frequency: 4.977270464877061e-5
allele num: 120548
alternate allele: AGTGGGGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+12_3020+18dupGGGGTGT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+12_129+18dupGGGGTGT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+12_3057+18dupGGGGTGT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+12_3024+18dupGGGGTGT
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39691
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-28828825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828825
    reference: chr 2
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-538G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-538G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-538G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+10G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-28828836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828836
    reference: chr 2
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+21C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-527C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+21C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+21C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-527C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-527C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+21C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-28828844-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828844
    reference: chr 2
allele count: 13
allele frequency: 1.085087558219121e-4
allele num: 119806
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+29C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+29C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-519C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-519C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+29C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+29C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-519C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-28828846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828846
    reference: chr 2
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-517G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-517G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+31G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-517G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+31G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+31G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+31G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-28828848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828848
    reference: chr 2
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-515G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+33G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-515G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-515G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+33G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+33G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+33G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
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: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-28828852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828852
    reference: chr 2
allele count: 5
allele frequency: 4.182840315888101e-5
allele num: 119536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+37C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+37C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-511C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+37C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+37C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-511C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-511C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39657
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-28828857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828857
    reference: chr 2
allele count: 1
allele frequency: 8.38335401227323e-6
allele num: 119284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-506C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+42C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-506C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-506C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+42C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+42C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+42C>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

2-28828859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828859
    reference: chr 2
allele count: 1
allele frequency: 8.390247176681825e-6
allele num: 119186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-504A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+44A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+44A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-504A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+44A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-504A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+44A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-28828863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28828863
    reference: chr 2
allele count: 5
allele frequency: 4.209675518211056e-5
allele num: 118774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-500C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3057+48C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.129+48C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-500C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-500C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3024+48C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3020+48C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39646
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-28829315-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829315
    reference: chr 2
allele count: 8
allele frequency: 6.653138618143109e-5
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-48A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-48A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-28829327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829327
    reference: chr 2
allele count: 3
allele frequency: 2.490163852781513e-5
allele num: 120474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-36T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-36T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18046
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-28829328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829328
    reference: chr 2
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-35A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-35A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-28829331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829331
    reference: chr 2
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-32A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-32A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-28829336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829336
    reference: chr 2
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-27C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-27C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18063
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

2-28829337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829337
    reference: chr 2
allele count: 2
allele frequency: 1.655355073663301e-5
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-26G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-26G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28829339-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829339
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829337
    reference: chr 2
allele count: 76
allele frequency: 6.283380458686773e-4
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-18_3025-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-18_3021-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-18_148-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-18_130-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-18_180-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-18_-48-17delCT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-18_3058-17delCT
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: GTC
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-28829345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829345
    reference: chr 2
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-18C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-18C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-28829346-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829346
    reference: chr 2
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.148-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.180-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3058-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3025-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-48-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.130-17T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3021-17T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-28829373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829373
    reference: chr 2
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3035T>C
  hgvsp: ENSP00000416440.2:p.Leu1012Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.140T>C
  hgvsp: ENSP00000391810.1:p.Leu47Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.158T>C
  hgvsp: ENST00000411743.1:c.158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3068T>C
  hgvsp: ENSP00000330442.5:p.Leu1023Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3031T>C
  hgvsp: ENSP00000384187.1:p.Leu1011Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.190T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1023Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-28829376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829376
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3071G>A
  hgvsp: ENSP00000330442.5:p.Gly1024Glu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.161G>A
  hgvsp: ENSP00000404723.1:p.Glu55Lys
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.193G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3038G>A
  hgvsp: ENSP00000416440.2:p.Gly1013Glu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3034G>A
  hgvsp: ENSP00000384187.1:p.Gly1012Glu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.143G>A
  hgvsp: ENSP00000391810.1:p.Gly48Glu
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1024Glu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-28829378-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829378
    reference: chr 2
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-33A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3036A>C
  hgvsp: ENSP00000384187.1:p.Ser1013Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3073A>C
  hgvsp: ENSP00000330442.5:p.Ser1025Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3040A>C
  hgvsp: ENSP00000416440.2:p.Ser1014Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.145A>C
  hgvsp: ENSP00000391810.1:p.Ser49Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.163A>C
  hgvsp: ENSP00000404723.1:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.195A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1025Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-28829390-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829390
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.175A>C
  hgvsp: ENSP00000404723.1:p.Arg59Ser
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.157A>C
  hgvsp: ENSP00000391810.1:p.Thr53Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3085A>C
  hgvsp: ENSP00000330442.5:p.Thr1029Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3052A>C
  hgvsp: ENSP00000416440.2:p.Thr1018Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3048A>C
  hgvsp: ENSP00000384187.1:p.Thr1017Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.207A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1029Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-28829390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829390
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3085A>G
  hgvsp: ENSP00000330442.5:p.Thr1029Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3052A>G
  hgvsp: ENSP00000416440.2:p.Thr1018Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3048A>G
  hgvsp: ENSP00000384187.1:p.Thr1017Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.207A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.175A>G
  hgvsp: ENST00000411743.1:c.175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.157A>G
  hgvsp: ENSP00000391810.1:p.Thr53Ala
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1029Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-28829398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829398
    reference: chr 2
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3060C>T
  hgvsp: ENST00000422425.2:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3056C>T
  hgvsp: ENST00000404858.1:c.3056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.215C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.165C>T
  hgvsp: ENST00000444257.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.183C>T
  hgvsp: ENSP00000404723.1:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3093C>T
  hgvsp: ENST00000327757.5:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18144
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr62Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-28829409-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829409
    reference: chr 2
allele count: 5
allele frequency: 4.123711340206185e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3067A>C
  hgvsp: ENSP00000384187.1:p.Glu1023Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.226A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3071A>C
  hgvsp: ENSP00000416440.2:p.Glu1024Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.-2A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3104A>C
  hgvsp: ENSP00000330442.5:p.Glu1035Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.176A>C
  hgvsp: ENSP00000391810.1:p.Glu59Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*7A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18147
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1035Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/2-28829414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829414
    reference: chr 2
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.4C>A
  hgvsp: ENSP00000437426.1:p.Pro2Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.181C>A
  hgvsp: ENSP00000391810.1:p.Pro61Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3109C>A
  hgvsp: ENSP00000330442.5:p.Pro1037Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*12C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3076C>A
  hgvsp: ENSP00000416440.2:p.Pro1026Thr
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.231C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3072C>A
  hgvsp: ENSP00000384187.1:p.Pro1025Thr
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1037Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-28829416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829416
    reference: chr 2
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3111C>T
  hgvsp: ENST00000327757.5:c.3111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.183C>T
  hgvsp: ENST00000444257.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3074C>T
  hgvsp: ENST00000404858.1:c.3074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.6C>T
  hgvsp: ENST00000541605.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.233C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3078C>T
  hgvsp: ENST00000422425.2:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1037Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-28829422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829422
    reference: chr 2
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3117C>T
  hgvsp: ENST00000327757.5:c.3117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3080C>T
  hgvsp: ENST00000404858.1:c.3080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3084C>T
  hgvsp: ENST00000422425.2:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.12C>T
  hgvsp: ENST00000541605.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.239C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.189C>T
  hgvsp: ENST00000444257.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1039Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-28829433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829433
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3091A>G
  hgvsp: ENSP00000384187.1:p.Gln1031Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3128A>G
  hgvsp: ENSP00000330442.5:p.Gln1043Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.250A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.23A>G
  hgvsp: ENSP00000437426.1:p.Gln8Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3095A>G
  hgvsp: ENSP00000416440.2:p.Gln1032Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.200A>G
  hgvsp: ENSP00000391810.1:p.Gln67Arg
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1043Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-28829441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829441
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+7G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+7G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3129+7G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-28829442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829442
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+8G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+8G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3129+8G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

2-28829443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829443
    reference: chr 2
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+9G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+9G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18140
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-28829445-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829446
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+13dupG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+13dupG
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-28829460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829460
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+26C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+26C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28829463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829463
    reference: chr 2
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+29C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+29C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

2-28829465-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829465
    reference: chr 2
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+31C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+31C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-28829467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829467
    reference: chr 2
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+33A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+33A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18138
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-28829472-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829472
    reference: chr 2
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+38C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+38C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6508
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

2-28829481-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829481
    reference: chr 2
allele count: 2
allele frequency: 1.651936896010573e-5
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+47A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+47A>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18142
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-28829484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829484
    reference: chr 2
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+50G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+50G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-28829485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28829485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28829485
    reference: chr 2
allele count: 17
allele frequency: 1.404796139289669e-4
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3129+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3096+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*32+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.201+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.251+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3092+51C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.24+51C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-28836855-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836855
    reference: chr 2
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-43A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-43A>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42973
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

2-28836859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836859
    reference: chr 2
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-39C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-28836864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836864
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-34A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-34A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

2-28836864-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836864
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-34A>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-28836873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836873
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-25C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-25C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-28836879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836879
    reference: chr 2
allele count: 13
allele frequency: 1.072200320010557e-4
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-19G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-28836881-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836882
    reference: chr 2
allele count: 172
allele frequency: 1.476242790442186e-3
allele num: 116512
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-8dupT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-8dupT
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 39400
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-28836881-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836880
    reference: chr 2
allele count: 11
allele frequency: 9.441087613293051e-5
allele num: 116512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-8delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-8delT
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 0
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: GT
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-28836883-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836883
    reference: chr 2
allele count: 22
allele frequency: 1.817430813713341e-4
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-15T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-15T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-28836884-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836884
    reference: chr 2
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-14T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-14T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-28836890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836890
    reference: chr 2
allele count: 4
allele frequency: 3.295978905735003e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-8T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-8T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: c.3130-8T>C
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28836890-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836891
    reference: chr 2
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-7dupC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-7dupC
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3130-7dupC
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-28836890-T-TTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836892
    reference: chr 2
allele count: 4223
allele frequency: 3.47972972972973e-2
allele num: 121360
alternate allele: TTC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-8_3093-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-8_*33-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-8_3097-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-8_252-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-8_25-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-8_3130-7insTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-8_202-7insTC
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 5.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 8.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 1687
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 2
hgvs: c.3130-8_3130-7insTC
num of homozygotes: 98
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

2-28836890-T-TTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836893
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: TTTC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-8_202-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-8_252-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-8_25-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-8_3097-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-8_3093-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-8_3130-7insTTC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-8_*33-7insTTC
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.3130-8_3130-7insTTC
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28836892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28836892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28836892
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000479065
  gene symbol: PLB1
  hgvsc: ENST00000479065.1:n.252-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.3130-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000404723
  ensembl transcript: ENST00000411743
  gene symbol: PLB1
  hgvsc: ENST00000411743.1:c.*33-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.3093-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.3097-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000437426
  ensembl transcript: ENST00000541605
  gene symbol: PLB1
  hgvsc: ENST00000541605.1:c.25-6T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000391810
  ensembl transcript: ENST00000444257
  gene symbol: PLB1
  hgvsc: ENST00000444257.1:c.202-6T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3130-6T>C
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9203
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.819000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: -1.643e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

DP
type: SiteQuality
SIO_000300: 3.038564e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

GenotypeQuality
all individuals: 2482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9200
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

DP
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BaseQRankSum
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SIO_000300: -4.681e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.855e0

ReadPosRankSum
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SIO_000300: -4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
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SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
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SIO_000300: -1.858e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.167e0

FS
type: SiteQuality
SIO_000300: 2.858e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
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SIO_000300: 3.79e-1

DP
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SIO_000300: 3.038296e6

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
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SIO_000300: 1.0e0

ReadPosRankSum
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SIO_000300: -1.215e0

InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.362e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
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SIO_000300: 3.037823e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.324e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.704e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.797e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 3.037173e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 2.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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 frequency: 0.0e0
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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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501395432584101e-5
allele num: 66646
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

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

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

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66604
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.764e0

DP
type: SiteQuality
SIO_000300: 3.032365e6

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.052e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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QD
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SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
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SIO_000300: 5.29e0

FS
type: SiteQuality
SIO_000300: 3.596e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -3.907e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 2.978e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 3.027444e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -3.37e-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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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.616e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 2.978e0

DP
type: SiteQuality
SIO_000300: 3.027444e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.487e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.024492e6

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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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.030432557719515e-5
allele num: 66442
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

FS
type: SiteQuality
SIO_000300: 1.654e0

MQRankSum
type: SiteQuality
SIO_000300: -6.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.156e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 3.015357e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.892e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-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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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 13
allele frequency: 1.250962278675905e-3
allele num: 10392
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
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DP
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QD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.44e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.980228e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 9.773999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 2.976448e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4117
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variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.560864962951762e-5
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.967575e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 2.167e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 435
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variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.145e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

VQSLOD
type: SiteQuality
SIO_000300: -5.123e-1

DP
type: SiteQuality
SIO_000300: 2.956662e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 2824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 290
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1958
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variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15146
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
type: SiteQuality
SIO_000300: 2.951846e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

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

GenotypeQuality
all individuals: 679
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 984
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variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14926
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.53857791225416e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035914872946963e-5
allele num: 65878
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.685e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 3.024e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.945894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1982
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2200
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GenotypeQuality
all individuals: 18002
bin: 9.75e1
variant carriers: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.789678675754625e-4
allele num: 10270
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.96962e6

FS
type: SiteQuality
SIO_000300: 2.923e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 6229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 4644
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526662039412137e-5
allele num: 66274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.559e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

DP
type: SiteQuality
SIO_000300: 2.013329e6

FS
type: SiteQuality
SIO_000300: 6.024e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.243e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2076
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GenotypeQuality
all individuals: 161
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017592564651921e-5
allele num: 66278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.511e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 3.048e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 2.016602e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 272
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 16071
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

FS
type: SiteQuality
SIO_000300: 4.239e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

DP
type: SiteQuality
SIO_000300: 2.025771e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
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GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 4.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

DP
type: SiteQuality
SIO_000300: 2.042757e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18079
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 3212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6494
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 2.045431e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.663e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18152
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.022310421552709e-3
allele num: 66516
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.329754069968826e-4
allele num: 11548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.055e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.051222e6

FS
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.992e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4870
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 18145
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2142
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 6.647e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 2.055937e6

QD
type: SiteQuality
SIO_000300: 1.383e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.056419e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.938e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

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

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4872
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variant carriers: 0

GenotypeQuality
all individuals: 17786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18146
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 2.623e0

DP
type: SiteQuality
SIO_000300: 2.058399e6

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.266e0

DP
type: SiteQuality
SIO_000300: 2.058113e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 4.856e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 4297
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 6652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 9.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.05784e6

FS
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

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

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6648
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 6.043e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.057544e6

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

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

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.057544e6

FS
type: SiteQuality
SIO_000300: 6.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

GenotypeQuality
all individuals: 17697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

East Asian
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South Asian
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Other
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European (Finnish)
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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African
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10350
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Latino
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East Asian
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16500
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African
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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DP
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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FS
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DP
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MQRankSum
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QD
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 5.107e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.097e1

DP
type: SiteQuality
SIO_000300: 2.054105e6

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.537e1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.67e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 2.051271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.442e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.855e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.1263e1

QD
type: SiteQuality
SIO_000300: 1.545e1

DP
type: SiteQuality
SIO_000300: 2.050574e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.651e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 2.05046e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

DP
type: SiteQuality
SIO_000300: 2.04988e6

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 4275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.726e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

DP
type: SiteQuality
SIO_000300: 2.04818e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.464e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 813
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4277
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6423
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variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

FS
type: SiteQuality
SIO_000300: 1.457e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.046802e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.943e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.458e0

MQRankSum
type: SiteQuality
SIO_000300: -1.124e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.048735e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 17

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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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.555007815318024e-4
allele num: 66536
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.009e0

DP
type: SiteQuality
SIO_000300: 2.05034e6

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 3.178898e6

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.181e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: -3.128e-1

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42983
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variant carriers: 2

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 1.089e0

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.180834e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 3.183203e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 9.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

FS
type: SiteQuality
SIO_000300: 9.702e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 3.183203e6

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2010
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.187064e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 3282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 43013
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2009
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variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.503933364183248e-3
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 3.190286e6

GenotypeQuality
all individuals: 564
bin: 3.75e1
variant carriers: 17

GenotypeQuality
all individuals: 496
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variant carriers: 17

GenotypeQuality
all individuals: 539
bin: 2.25e1
variant carriers: 36

GenotypeQuality
all individuals: 2559
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variant carriers: 8

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 600
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variant carriers: 7

GenotypeQuality
all individuals: 519
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variant carriers: 7

GenotypeQuality
all individuals: 1975
bin: 7.75e1
variant carriers: 4

Latino
type: Population
allele count: 14
allele frequency: 1.258992805755396e-3
allele num: 11120
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.583217890362161e-3
allele num: 10106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.304147465437788e-3
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.399232245681382e-4
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.374430073508887e-4
allele num: 64482
num of homozygotes: 0

South Asian
type: Population
allele count: 84
allele frequency: 5.567338282078473e-3
allele num: 15088
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

FS
type: SiteQuality
SIO_000300: 9.71e-1

QD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 3.415101e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 1215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1975
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variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199616122840691e-4
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.240656307186502e-4
allele num: 64482
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.979022362952701e-4
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 3.415101e6

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 22
allele frequency: 1.333818358190857e-3
allele num: 16494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 3.323882e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
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SIO_000300: -1.257e0

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1917
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

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

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.26e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 2393
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 3.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.066e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2985
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variant carriers: 0

GenotypeQuality
all individuals: 2374
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variant carriers: 0

GenotypeQuality
all individuals: 44623
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.253e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 3.467923e6

MQ
type: SiteQuality
SIO_000300: 6.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 2985
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2374
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44623
bin: 9.75e1
variant carriers: 4093

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 4

African
type: Population
allele count: 92
allele frequency: 8.847855356799385e-3
allele num: 10398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 325
allele frequency: 4.915305505142166e-2
allele num: 6612
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 3288
allele frequency: 4.928500764457235e-2
allele num: 66714
num of homozygotes: 79

Latino
type: Population
allele count: 169
allele frequency: 1.460421707569996e-2
allele num: 11572
num of homozygotes: 4

Other
type: Population
allele count: 37
allele frequency: 4.074889867841409e-2
allele num: 908
num of homozygotes: 1

South Asian
type: Population
allele count: 312
allele frequency: 1.889992730797189e-2
allele num: 16508
num of homozygotes: 3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 6.066e1

FS
type: SiteQuality
SIO_000300: 3.253e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 3.467923e6

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44623
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 1.062e1

DP
type: SiteQuality
SIO_000300: 3.467923e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 3.253e0

MQ
type: SiteQuality
SIO_000300: 6.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1