2-28789685-GGCACCGTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789676
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.377_385delGCACCGTTA
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.368_376delGCACCGTTA
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.434_442delGCACCGTTA
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
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: 4000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly435_Thr438delinsAla
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: GGCACCGTTA
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-28789685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789685
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.376G>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.1303G>C
  hgvsp: ENSP00000330442.5:p.Gly435Arg
  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.1336G>C
  hgvsp: ENSP00000416440.2:p.Gly446Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.367G>C
  hgvsp: ENSP00000330729.6:p.Gly123Arg
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.433G>C
  hgvsp: ENSP00000392493.1:p.Gly145Arg
  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.1332G>C
  hgvsp: ENSP00000384187.1:p.Gly445Arg
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly435Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

2-28789694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789694
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1341A>G
  hgvsp: ENSP00000384187.1:p.Thr448Ala
  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.1345A>G
  hgvsp: ENSP00000416440.2:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.442A>G
  hgvsp: ENSP00000392493.1:p.Thr148Ala
  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.1312A>G
  hgvsp: ENSP00000330442.5:p.Thr438Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.376A>G
  hgvsp: ENSP00000330729.6:p.Thr126Ala
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.385A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr438Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-28789694-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789693
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.378delC
  hgvsp: ENSP00000330729.6:p.Thr127ProfsTer13
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.387delC
  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.1314delC
  hgvsp: ENSP00000330442.5:p.Thr439ProfsTer13
  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.1343delC
  hgvsp: ENSP00000384187.1:p.Thr449ProfsTer13
  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.1347delC
  hgvsp: ENSP00000416440.2:p.Thr450ProfsTer13
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.444delC
  hgvsp: ENSP00000392493.1:p.Thr149ProfsTer13
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr439ProfsTer13
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: AC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-28789697-ACCCTGGCGAGTGAGTACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789679
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1317_1324+10delCCTGGCGAGTGAGTACGC
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: ACCCTGGCGAGTGAGTACG
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-28789703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789703
    reference: chr 2
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.451G>A
  hgvsp: ENSP00000392493.1:p.Ala151Thr
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.394G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.385G>A
  hgvsp: ENSP00000330729.6:p.Ala129Thr
  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.1321G>A
  hgvsp: ENSP00000330442.5:p.Ala441Thr
  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.1354G>A
  hgvsp: ENSP00000416440.2:p.Ala452Thr
  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.1350G>A
  hgvsp: ENSP00000384187.1:p.Ala451Thr
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala441Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-28789705-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789705
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.1356G>T
  hgvsp: ENST00000422425.2:c.1356G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.387G>T
  hgvsp: ENST00000329020.6:c.387G>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.396G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1352G>T
  hgvsp: ENST00000404858.1:c.1352G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.453G>T
  hgvsp: ENST00000436544.1:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1323G>T
  hgvsp: ENST00000327757.5:c.1323G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1323G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-28789712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789712
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789712
    reference: chr 2
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: C
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.1357+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: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+6T>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+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: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+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.1324+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.1353+6T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.75e1
  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: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1324+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-28789714-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789714
    reference: chr 2
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+8C>G
  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.1324+8C>G
  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.1353+8C>G
  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.1357+8C>G
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+8C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+8C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1324+8C>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-28789714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789714
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+8C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+8C>T
  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.1357+8C>T
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+8C>T
  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.1324+8C>T
  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.1353+8C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50773
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1324+8C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-28789714-CGCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789711
    reference: chr 2
allele count: 5
allele frequency: 4.123371268349002e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+17_454+19delGGC
  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.1324+17_1324+19delGGC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+17_388+19delGGC
  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.1357+17_1357+19delGGC
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+17_397+19delGGC
  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.1353+17_1353+19delGGC
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50773
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CGCG
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-28789717-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789717
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
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.1324+11G>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.1353+11G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+11G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+11G>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.1357+11G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+11G>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-28789719-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789719
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1353+13C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+13C>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.1324+13C>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.1357+13C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+13C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+13C>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-28789719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789719
    reference: chr 2
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+13C>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.1324+13C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+13C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+13C>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.1353+13C>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.1357+13C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3246
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genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 979
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genotype quality: GenotypeQuality
  all individuals: 630
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1040
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28789720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789720
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
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.1357+14G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+14G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+14G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+14G>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.1324+14G>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.1353+14G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4389
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
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genotype depth: GenotypeDepth
  all individuals: 4456
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-28789722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789722
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+16C>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.1353+16C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+16C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+16C>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.1324+16C>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.1357+16C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-28789723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789723
    reference: chr 2
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+17G>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.1357+17G>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.1353+17G>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.1324+17G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+17G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+17G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50769
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-28789723-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789723
    reference: chr 2
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
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.1357+17G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+17G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+17G>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.1324+17G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+17G>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.1353+17G>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50769
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-28789725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789725
    reference: chr 2
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
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.1353+19C>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.1324+19C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+19C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+19C>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.1357+19C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+19C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50767
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-28789728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789728
    reference: chr 2
allele count: 9
allele frequency: 7.430156528630869e-5
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1324+22G>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.1357+22G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+22G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+22G>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.1353+22G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+22G>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50766
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

2-28789731-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789731
    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: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+25T>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.1357+25T>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.1353+25T>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+25T>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+25T>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.1324+25T>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-28789732-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789731
    reference: chr 2
allele count: 5
allele frequency: 4.129091930102732e-5
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1353+29delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+29delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+29delT
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+29delT
  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.1357+29delT
  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.1324+29delT
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50767
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: GT
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-28789737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789737
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789737
    reference: chr 2
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+31G>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.1357+31G>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.1353+31G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+31G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+31G>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.1324+31G>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-28789740-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789740
    reference: chr 2
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
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.1353+34T>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.1357+34T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+34T>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.1324+34T>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+34T>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+34T>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS

2-28789740-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789739
    reference: chr 2
allele count: 4
allele frequency: 3.305238803503553e-5
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+38delG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+38delG
  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.1353+38delG
  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.1324+38delG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+38delG
  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.1357+38delG
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50765
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: TG
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-28789741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789741
    reference: chr 2
allele count: 4
allele frequency: 3.30611300294244e-5
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1353+35G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+35G>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.1324+35G>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.1357+35G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+35G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+35G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-28789742-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789742
    reference: chr 2
allele count: 7
allele frequency: 5.785602115877345e-5
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1324+36G>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.1357+36G>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.1353+36G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+36G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+36G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+36G>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-28789743-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789743
    reference: chr 2
allele count: 13
allele frequency: 1.074895404408725e-4
allele num: 120942
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.1357+37G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+37G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+37G>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.1324+37G>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.1353+37G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+37G>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-28789745-C-CGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789747
    reference: chr 2
allele count: 2
allele frequency: 1.654204989082247e-5
allele num: 120904
alternate allele: CGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1353+40_1353+41dupGG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+40_454+41dupGG
  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.1357+40_1357+41dupGG
  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.1324+40_1324+41dupGG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+40_397+41dupGG
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+40_388+41dupGG
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50761
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-28789745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789745
    reference: chr 2
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
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.1324+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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+39C>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.1357+39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+39C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+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.1353+39C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-28789756-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28789756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28789756
    reference: chr 2
allele count: 24
allele frequency: 1.994216771363047e-4
allele num: 120348
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.1324+50C>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.1353+50C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.388+50C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.454+50C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.397+50C>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.1357+50C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

2-28796020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796020
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 105806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.455-44G>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.1325-44G>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.1358-44G>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.389-44G>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.1354-44G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.398-44G>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-28796041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796041
    reference: chr 2
allele count: 21
allele frequency: 1.887640449438202e-4
allele num: 111250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.398-23G>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.1354-23G>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.1325-23G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.455-23G>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.1358-23G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.389-23G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31330
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-28796054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796054
    reference: chr 2
allele count: 1
allele frequency: 8.599043786330961e-6
allele num: 116292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1354-10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.389-10G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.398-10G>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.1325-10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.455-10G>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.1358-10G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-28796056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796056
    reference: chr 2
allele count: 1
allele frequency: 8.552271483305966e-6
allele num: 116928
alternate allele: G
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.1325-8A>G
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.398-8A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.389-8A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.455-8A>G
  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.1358-8A>G
  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.1354-8A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1325-8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-28796065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796065
    reference: chr 2
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.456C>T
  hgvsp: ENST00000436544.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsc: ENST00000422425.2:c.1359C>T
  hgvsp: ENST00000422425.2:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1326C>T
  hgvsp: ENST00000327757.5:c.1326C>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.399C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1355C>T
  hgvsp: ENST00000404858.1:c.1355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.390C>T
  hgvsp: ENST00000329020.6:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1326C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-28796069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796069
    reference: chr 2
allele count: 2
allele frequency: 1.680361613819294e-5
allele num: 119022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1330C>T
  hgvsp: ENSP00000330442.5:p.Leu444Phe
  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.1363C>T
  hgvsp: ENSP00000416440.2:p.Leu455Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.460C>T
  hgvsp: ENSP00000392493.1:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.394C>T
  hgvsp: ENSP00000330729.6:p.Leu132Phe
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.403C>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.1359C>T
  hgvsp: ENSP00000384187.1:p.Leu454Phe
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu444Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-28796072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796072
    reference: chr 2
allele count: 10
allele frequency: 8.382229673093043e-5
allele num: 119300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.406C>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.1362C>T
  hgvsp: ENSP00000384187.1:p.Arg455Trp
  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.1366C>T
  hgvsp: ENSP00000416440.2:p.Arg456Trp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.397C>T
  hgvsp: ENSP00000330729.6:p.Arg133Trp
  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.1333C>T
  hgvsp: ENSP00000330442.5:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.463C>T
  hgvsp: ENSP00000392493.1:p.Arg155Trp
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg445Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-28796073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796073
    reference: chr 2
allele count: 33
allele frequency: 2.763032302359462e-4
allele num: 119434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.464G>A
  hgvsp: ENSP00000392493.1:p.Arg155Gln
  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.1334G>A
  hgvsp: ENSP00000330442.5:p.Arg445Gln
  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.1367G>A
  hgvsp: ENSP00000416440.2:p.Arg456Gln
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.407G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.398G>A
  hgvsp: ENSP00000330729.6:p.Arg133Gln
  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.1363G>A
  hgvsp: ENSP00000384187.1:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg445Gln
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-28796073-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796073
    reference: chr 2
allele count: 27
allele frequency: 2.26066279283956e-4
allele num: 119434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1334G>T
  hgvsp: ENSP00000330442.5:p.Arg445Leu
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.407G>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.1363G>T
  hgvsp: ENSP00000384187.1:p.Arg455Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.398G>T
  hgvsp: ENSP00000330729.6:p.Arg133Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.464G>T
  hgvsp: ENSP00000392493.1:p.Arg155Leu
  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.1367G>T
  hgvsp: ENSP00000416440.2:p.Arg456Leu
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg445Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-28796074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796074
    reference: chr 2
allele count: 2
allele frequency: 1.67313612635524e-5
allele num: 119536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1364G>A
  hgvsp: ENST00000404858.1:c.1364G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.465G>A
  hgvsp: ENST00000436544.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.399G>A
  hgvsp: ENST00000329020.6:c.399G>A(p.%3D)
  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.1335G>A
  hgvsp: ENST00000327757.5:c.1335G>A(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.1368G>A
  hgvsp: ENST00000422425.2:c.1368G>A(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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.408G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg445Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-28796089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796089
    reference: chr 2
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
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.1350C>T
  hgvsp: ENST00000327757.5:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.480C>T
  hgvsp: ENST00000436544.1:c.480C>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.1383C>T
  hgvsp: ENST00000422425.2:c.1383C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.423C>T
  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.1379C>T
  hgvsp: ENST00000404858.1:c.1379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.414C>T
  hgvsp: ENST00000329020.6:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser450Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

2-28796092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796092
    reference: chr 2
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.417G>A
  hgvsp: ENST00000329020.6:c.417G>A(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.1386G>A
  hgvsp: ENST00000422425.2:c.1386G>A(p.%3D)
  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.1353G>A
  hgvsp: ENST00000327757.5:c.1353G>A(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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.426G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.483G>A
  hgvsp: ENST00000436544.1:c.483G>A(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.1382G>A
  hgvsp: ENST00000404858.1:c.1382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu451Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-28796092-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796092
    reference: chr 2
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.417G>C
  hgvsp: ENST00000329020.6:c.417G>C(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.1386G>C
  hgvsp: ENST00000422425.2:c.1386G>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.1382G>C
  hgvsp: ENST00000404858.1:c.1382G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.483G>C
  hgvsp: ENST00000436544.1:c.483G>C(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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.426G>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.1353G>C
  hgvsp: ENST00000327757.5:c.1353G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu451Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-28796105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796105
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
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.1366G>A
  hgvsp: ENSP00000330442.5:p.Val456Ile
  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.1399G>A
  hgvsp: ENSP00000416440.2:p.Val467Ile
  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.1395G>A
  hgvsp: ENSP00000384187.1:p.Val466Ile
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.439G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.496G>A
  hgvsp: ENSP00000392493.1:p.Val166Ile
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.430G>A
  hgvsp: ENSP00000330729.6:p.Val144Ile
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val456Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-28796111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796111
    reference: chr 2
allele count: 4
allele frequency: 3.314221323699997e-5
allele num: 120692
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.1372A>G
  hgvsp: ENSP00000330442.5:p.Thr458Ala
  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.1401A>G
  hgvsp: ENSP00000384187.1:p.Thr468Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.502A>G
  hgvsp: ENSP00000392493.1:p.Thr168Ala
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.445A>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.1405A>G
  hgvsp: ENSP00000416440.2:p.Thr469Ala
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.436A>G
  hgvsp: ENSP00000330729.6:p.Thr146Ala
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr458Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-28796117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796117
    reference: chr 2
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.508A>G
  hgvsp: ENSP00000392493.1:p.Lys170Glu
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.451A>G
  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.1378A>G
  hgvsp: ENSP00000330442.5:p.Lys460Glu
  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.1407A>G
  hgvsp: ENSP00000384187.1:p.Lys470Glu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.442A>G
  hgvsp: ENSP00000330729.6:p.Lys148Glu
  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.1411A>G
  hgvsp: ENSP00000416440.2:p.Lys471Glu
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13770
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys460Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-28796124-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796124
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796124
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.458C>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.515C>A
  hgvsp: ENSP00000392493.1:p.Thr172Asn
  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.1414C>A
  hgvsp: ENSP00000384187.1:p.Thr472Asn
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.449C>A
  hgvsp: ENSP00000330729.6:p.Thr150Asn
  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.1385C>A
  hgvsp: ENSP00000330442.5:p.Thr462Asn
  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.1418C>A
  hgvsp: ENSP00000416440.2:p.Thr473Asn
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr462Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-28796132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796132
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796132
    reference: chr 2
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1422A>G
  hgvsp: ENSP00000384187.1:p.Asn475Asp
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.466A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.457A>G
  hgvsp: ENSP00000330729.6:p.Asn153Asp
  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.1393A>G
  hgvsp: ENSP00000330442.5:p.Asn465Asp
  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.1426A>G
  hgvsp: ENSP00000416440.2:p.Asn476Asp
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.523A>G
  hgvsp: ENSP00000392493.1:p.Asn175Asp
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn465Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-28796137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796137
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796137
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.528C>T
  hgvsp: ENST00000436544.1:c.528C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.471C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.462C>T
  hgvsp: ENST00000329020.6:c.462C>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.1427C>T
  hgvsp: ENST00000404858.1:c.1427C>T(p.%3D)
  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.1398C>T
  hgvsp: ENST00000327757.5:c.1398C>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.1431C>T
  hgvsp: ENST00000422425.2:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 8.25e1
  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: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala466Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-28796138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796138
    reference: chr 2
allele count: 5
allele frequency: 4.146143257541834e-5
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.463T>C
  hgvsp: ENSP00000330729.6:p.Phe155Leu
  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.1432T>C
  hgvsp: ENSP00000416440.2:p.Phe478Leu
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.472T>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.1399T>C
  hgvsp: ENSP00000330442.5:p.Phe467Leu
  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.1428T>C
  hgvsp: ENSP00000384187.1:p.Phe477Leu
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.529T>C
  hgvsp: ENSP00000392493.1:p.Phe177Leu
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 43860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe467Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-28796148-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796148
    reference: chr 2
allele count: 3
allele frequency: 2.494346148729547e-5
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1409A>C
  hgvsp: ENSP00000330442.5:p.Gln470Pro
  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.1442A>C
  hgvsp: ENSP00000416440.2:p.Gln481Pro
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.482A>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.473A>C
  hgvsp: ENSP00000330729.6:p.Gln158Pro
  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.1438A>C
  hgvsp: ENSP00000384187.1:p.Gln480Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.539A>C
  hgvsp: ENSP00000392493.1:p.Gln180Pro
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln470Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/2-28796151-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796152
    reference: chr 2
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.485_486insA
  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.1441_1442insA
  hgvsp: ENSP00000384187.1:p.Val482CysfsTer7
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.542_543insA
  hgvsp: ENSP00000392493.1:p.Val182CysfsTer7
  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.1412_1413insA
  hgvsp: ENSP00000330442.5:p.Val472CysfsTer7
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.476_477insA
  hgvsp: ENSP00000330729.6:p.Val160CysfsTer7
  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.1445_1446insA
  hgvsp: ENSP00000416440.2:p.Val483CysfsTer7
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5799
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val472CysfsTer7
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28796152-T-TAAGGTCTGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796162
    reference: chr 2
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: TAAGGTCTGAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsp: ENSP00000384187.1:p.Val482LysfsTer3
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsp: ENSP00000330442.5:p.Val472LysfsTer3
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000416440
  ensembl transcript: ENST00000422425
  gene symbol: PLB1
  hgvsp: ENSP00000416440.2:p.Val483LysfsTer3
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsp: ENSP00000330729.6:p.Val160LysfsTer3
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsp: ENSP00000392493.1:p.Val182LysfsTer3
  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: ENST00000485642
  gene symbol: PLB1
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val472LysfsTer3
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-28796153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796153
    reference: chr 2
allele count: 3
allele frequency: 2.496463343596572e-5
allele num: 120170
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.1414G>A
  hgvsp: ENSP00000330442.5:p.Val472Met
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.544G>A
  hgvsp: ENSP00000392493.1:p.Val182Met
  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.1447G>A
  hgvsp: ENSP00000416440.2:p.Val483Met
  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.1443G>A
  hgvsp: ENSP00000384187.1:p.Val482Met
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.487G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.478G>A
  hgvsp: ENSP00000330729.6:p.Val160Met
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val472Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-28796157-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796157
    reference: chr 2
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.482C>G
  hgvsp: ENSP00000330729.6:p.Ala161Gly
  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.1451C>G
  hgvsp: ENSP00000416440.2:p.Ala484Gly
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.491C>G
  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.1418C>G
  hgvsp: ENSP00000330442.5:p.Ala473Gly
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.548C>G
  hgvsp: ENSP00000392493.1:p.Ala183Gly
  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.1447C>G
  hgvsp: ENSP00000384187.1:p.Ala483Gly
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala473Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-28796157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796157
    reference: chr 2
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.491C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.482C>T
  hgvsp: ENSP00000330729.6:p.Ala161Val
  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.1451C>T
  hgvsp: ENSP00000416440.2:p.Ala484Val
  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.1447C>T
  hgvsp: ENSP00000384187.1:p.Ala483Val
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.548C>T
  hgvsp: ENSP00000392493.1:p.Ala183Val
  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.1418C>T
  hgvsp: ENSP00000330442.5:p.Ala473Val
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala473Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-28796162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796162
    reference: chr 2
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1452G>A
  hgvsp: ENSP00000384187.1:p.Gly485Ser
  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.1423G>A
  hgvsp: ENSP00000330442.5:p.Gly475Ser
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.553G>A
  hgvsp: ENSP00000392493.1:p.Gly185Ser
  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.1456G>A
  hgvsp: ENSP00000416440.2:p.Gly486Ser
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.487G>A
  hgvsp: ENSP00000330729.6:p.Gly163Ser
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.496G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly475Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-28796165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796165
    reference: chr 2
allele count: 6
allele frequency: 5.020836471356128e-5
allele num: 119502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.490C>T
  hgvsp: ENSP00000330729.6:p.Arg164Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.556C>T
  hgvsp: ENSP00000392493.1:p.Arg186Ter
  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.1459C>T
  hgvsp: ENSP00000416440.2:p.Arg487Ter
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1455C>T
  hgvsp: ENSP00000384187.1:p.Arg486Ter
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.499C>T
  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.1426C>T
  hgvsp: ENSP00000330442.5:p.Arg476Ter
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg476Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-28796168-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796168
    reference: chr 2
allele count: 8
allele frequency: 6.709720707875535e-5
allele num: 119230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330442
  ensembl transcript: ENST00000327757
  gene symbol: PLB1
  hgvsc: ENST00000327757.5:c.1429G>C
  hgvsp: ENSP00000330442.5:p.Ala477Pro
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.559G>C
  hgvsp: ENSP00000392493.1:p.Ala187Pro
  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.1462G>C
  hgvsp: ENSP00000416440.2:p.Ala488Pro
  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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.502G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.493G>C
  hgvsp: ENSP00000330729.6:p.Ala165Pro
  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.1458G>C
  hgvsp: ENSP00000384187.1:p.Ala487Pro
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 40437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala477Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

2-28796181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796181
    reference: chr 2
allele count: 1
allele frequency: 8.481044864727334e-6
allele num: 117910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+9G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+9G>C
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+9G>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.1462+9G>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.1466+9G>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.1433+9G>C
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-28796182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796182
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796182
    reference: chr 2
allele count: 862
allele frequency: 7.31128074639525e-3
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+10G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+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.1433+10G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+10G>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.1466+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.1462+10G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 28576
  bin: 2.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 9.75e1
  variant carriers: 849
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34469
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 5
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-28796185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796185
    reference: chr 2
allele count: 1
allele frequency: 8.513391564931637e-6
allele num: 117462
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.1433+13G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+13G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+13G>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.1466+13G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+13G>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.1462+13G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-28796186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796186
    reference: chr 2
allele count: 1
allele frequency: 8.516581784734879e-6
allele num: 117418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+14A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+14A>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+14A>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.1462+14A>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.1433+14A>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.1466+14A>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-28796188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796188
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796188
    reference: chr 2
allele count: 6
allele frequency: 5.123563267467081e-5
allele num: 117106
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.1462+16C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+16C>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.1433+16C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+16C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+16C>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.1466+16C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-28796189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796189
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796189
    reference: chr 2
allele count: 15
allele frequency: 1.283477368015744e-4
allele num: 116870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000384187
  ensembl transcript: ENST00000404858
  gene symbol: PLB1
  hgvsc: ENST00000404858.1:c.1462+17G>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.1433+17G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+17G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+17G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+17G>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.1466+17G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25433
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-28796191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796191
    reference: chr 2
allele count: 1
allele frequency: 8.552710353911154e-6
allele num: 116922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+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.1466+19G>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.1433+19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+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.1462+19G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+19G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-28796193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796193
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796193
    reference: chr 2
allele count: 4
allele frequency: 3.432887058015791e-5
allele num: 116520
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.1466+21C>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.1462+21C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+21C>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+21C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+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.1433+21C>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-28796194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796194
    reference: chr 2
allele count: 20
allele frequency: 1.720104582358607e-4
allele num: 116272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+22G>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.1466+22G>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.1462+22G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+22G>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.1433+22G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+22G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-28796197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796197
    reference: chr 2
allele count: 3
allele frequency: 2.584914439332058e-5
allele num: 116058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl transcript: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+25G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+25G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+25G>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.1466+25G>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.1433+25G>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.1462+25G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-28796205-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796205
    reference: chr 2
allele count: 1
allele frequency: 8.659358168372561e-6
allele num: 115482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+33C>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+33C>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.1466+33C>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.1433+33C>G
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+33C>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.1462+33C>G
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

2-28796206-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796206
    reference: chr 2
allele count: 5
allele frequency: 4.349868633967254e-5
allele num: 114946
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.1466+34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+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.1462+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.1433+34A>T
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+34A>T
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

2-28796207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28796207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 28796207
    reference: chr 2
allele count: 1
allele frequency: 8.701705534284719e-6
allele num: 114920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000392493
  ensembl transcript: ENST00000436544
  gene symbol: PLB1
  hgvsc: ENST00000436544.1:c.563+35G>A
  variant of: http://identifiers.org/hgnc/30041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163803
  ensembl protein: ENSP00000330729
  ensembl transcript: ENST00000329020
  gene symbol: PLB1
  hgvsc: ENST00000329020.6:c.497+35G>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: ENST00000485642
  gene symbol: PLB1
  hgvsc: ENST00000485642.1:n.506+35G>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.1433+35G>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.1462+35G>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.1466+35G>A
  variant of: http://identifiers.org/hgnc/30041
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 4.222153e6

GenotypeQuality
all individuals: 995
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 66722
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 5.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 4.222153e6

MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 66706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 4.221398e6

QD
type: SiteQuality
SIO_000300: 1.023e1

FS
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.005e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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Other
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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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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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MQ
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QD
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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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66690
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

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

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

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

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

MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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 frequency: 0.0e0
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InbreedingCoeff
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQRankSum
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
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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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16510
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 num: 11570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.842e1

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

East Asian
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num of homozygotes: 0

South Asian
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6614
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Latino
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num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.503902029055108e-5
allele num: 66632
num of homozygotes: 0

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

East Asian
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Other
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African
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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European (Finnish)
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South Asian
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DP
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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QD
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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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variant carriers: 2

African
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66614
num of homozygotes: 0

East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 6.288e0

DP
type: SiteQuality
SIO_000300: 4.213672e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 8.73e0

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50770
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
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: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

DP
type: SiteQuality
SIO_000300: 4.213044e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50770
bin: 9.75e1
variant carriers: 1

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: 17
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GenotypeQuality
all individuals: 627
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 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: 8642
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: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 1.486e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.174e0

DP
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SIO_000300: 4.211866e6

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 7
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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
all individuals: 95
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GenotypeQuality
all individuals: 20
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.931993817619784e-4
allele num: 10352
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.25e1
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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
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: 10352
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: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 4.211483e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

FS
type: SiteQuality
SIO_000300: 2.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.21042e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051809111672076e-4
allele num: 66552
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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: 8638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.188e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 4.208735e6

FS
type: SiteQuality
SIO_000300: 1.466e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.8e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.205364e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.836525440123815e-4
allele num: 10338
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.204766e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.029e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

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
all individuals: 943
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.036e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.43e-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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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.637143519591931e-4
allele num: 8626
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: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.036e1

FS
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

DP
type: SiteQuality
SIO_000300: 4.197059e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50761
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
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: 2
allele frequency: 3.009238361770636e-5
allele num: 66462
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 4.195595e6

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.25e1
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: 7

GenotypeQuality
all individuals: 13
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053170041825896e-4
allele num: 66466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.666e0

DP
type: SiteQuality
SIO_000300: 4.194745e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 2476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50763
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
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: 13
allele frequency: 7.879742999151412e-4
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 4.191261e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 4.189564e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.748e1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
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variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 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: 904
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.051e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.748e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

DP
type: SiteQuality
SIO_000300: 4.189564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50757
bin: 9.75e1
variant carriers: 24

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.630752473450122e-4
allele num: 66102
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

DP
type: SiteQuality
SIO_000300: 4.178309e6

FS
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15622
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variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.0e-4

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.179216e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 20

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: 1480
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.721540778997203e-3
allele num: 9294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626703972411101e-5
allele num: 61474
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.882741215298e-4
allele num: 10302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.374034e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

FS
type: SiteQuality
SIO_000300: 1.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40950
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64434
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.012e1

MQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 5.388e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.452004e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543924656476764e-5
allele num: 64770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.45978e6

VQSLOD
type: SiteQuality
SIO_000300: -2.112e0

FS
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 1906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42877
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.481491e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.602e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

FS
type: SiteQuality
SIO_000300: 5.325e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.807e1

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.026753141467369e-4
allele num: 9868
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

DP
type: SiteQuality
SIO_000300: 1.487699e6

FS
type: SiteQuality
SIO_000300: 3.32e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.015316404675534e-4
allele num: 9924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032232632887595e-5
allele num: 65958
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.103662321539416e-4
allele num: 16110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.492253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 7.11e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.772735330615139e-4
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.051529790660225e-4
allele num: 9936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.436194895591647e-3
allele num: 8620
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.239464551313832e-4
allele num: 16136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 1.266e0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.495824e6

GenotypeQuality
all individuals: 2365
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43423
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 3.132250580046404e-3
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

DP
type: SiteQuality
SIO_000300: 1.495824e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

FS
type: SiteQuality
SIO_000300: 1.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

GenotypeQuality
all individuals: 1947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028009084027252e-5
allele num: 66050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 3.15e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.799e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.317e0

VQSLOD
type: SiteQuality
SIO_000300: -2.815e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 1.494778e6

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.912767644726408e-5
allele num: 10088
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.677e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.966e0

DP
type: SiteQuality
SIO_000300: 1.504508e6

FS
type: SiteQuality
SIO_000300: 3.94e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
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: 16322
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.747335313646689e-4
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.736e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.506606e6

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeQuality
all individuals: 5914
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
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: 6598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

DP
type: SiteQuality
SIO_000300: 1.506606e6

FS
type: SiteQuality
SIO_000300: 1.736e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 44186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5918
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

DP
type: SiteQuality
SIO_000300: 1.509523e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2310
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014675808973896e-5
allele num: 66504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

DP
type: SiteQuality
SIO_000300: 1.510265e6

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 7.672e0

QD
type: SiteQuality
SIO_000300: 1.07e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.536e0

FS
type: SiteQuality
SIO_000300: 1.583e0

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.68e0

DP
type: SiteQuality
SIO_000300: 1.510835e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1956
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
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African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.510117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 2.614e0

QD
type: SiteQuality
SIO_000300: 9.56e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.203e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.504e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
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: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 4.447e0

DP
type: SiteQuality
SIO_000300: 1.509133e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2304
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GenotypeQuality
all individuals: 1935
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.507737e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.825e1

FS
type: SiteQuality
SIO_000300: 5.727e0

VQSLOD
type: SiteQuality
SIO_000300: -5.497e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.542e0

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
all individuals: 5913
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GenotypeQuality
all individuals: 106
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.916420845624386e-4
allele num: 10170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.508193e6

QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 4.078e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
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: 3
allele frequency: 2.965599051008304e-4
allele num: 10116
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.499967e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.78e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.625e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10116
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6578
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Latino
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele num: 894
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.649e1

DP
type: SiteQuality
SIO_000300: 1.500253e6

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

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

East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11414
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Other
type: Population
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66312
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African
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

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

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

South Asian
type: Population
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 2
allele frequency: 3.04228780042592e-4
allele num: 6574
num of homozygotes: 0

Latino
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allele num: 11410
num of homozygotes: 0

African
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.298e1

DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.493042e6

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

FS
type: SiteQuality
SIO_000300: 2.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
all individuals: 1488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 2.774e0

QD
type: SiteQuality
SIO_000300: 1.295e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 1.493042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 41654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.485813e6

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 41213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 2.75e1
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GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 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: 11310
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.098905098419823e-5
allele num: 65942
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.481884e6

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 2.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5630
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.330075467029568e-4
allele num: 16166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

DP
type: SiteQuality
SIO_000300: 1.475316e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 6.011e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4986
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.437e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.422386e6

QD
type: SiteQuality
SIO_000300: 2.397e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4879
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1984
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 746
allele frequency: 1.146986469864699e-2
allele num: 65040
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.090234857849196e-3
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.827040194884287e-3
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175640724194686e-4
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.875270367700072e-3
allele num: 11096
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.747126436781609e-3
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.805278884462151e-3
allele num: 16064
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

DP
type: SiteQuality
SIO_000300: 1.434153e6

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543686322939179e-5
allele num: 64780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.398472e6

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 6.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

FS
type: SiteQuality
SIO_000300: 1.879e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.184e0

GenotypeQuality
all individuals: 2581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-5
allele num: 64760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.323e0

DP
type: SiteQuality
SIO_000300: 1.397927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 2.291e0

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 852
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30898
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.142506142506142e-4
allele num: 9768
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: 15974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.38896e6

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
all individuals: 1715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 9.75e1
variant carriers: 15

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.115770282588879e-5
allele num: 10970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.538825757575758e-3
allele num: 8448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 1.384046e6

GenotypeQuality
all individuals: 1993
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.257039169065198e-5
allele num: 15982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

DP
type: SiteQuality
SIO_000300: 1.370416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 3684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.369668246445498e-4
allele num: 8440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.111968631356196e-5
allele num: 64268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.355261e6

FS
type: SiteQuality
SIO_000300: 1.1972e1

VQSLOD
type: SiteQuality
SIO_000300: -7.996e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
all individuals: 1660
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 27881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64130
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.899335232668566e-3
allele num: 8424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.510985561833019e-4
allele num: 15930
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.368e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.355518e6

FS
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.746e0

GenotypeQuality
all individuals: 851
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.885132587658665e-4
allele num: 15914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.173e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 1.331988e6

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 8797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 604
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63680
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.279881217520415e-5
allele num: 10776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 7.56e0

VQSLOD
type: SiteQuality
SIO_000300: -9.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

DP
type: SiteQuality
SIO_000300: 1.285475e6

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63396
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 5.232314776056927e-4
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.26772e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1