5-78915852-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915852
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915852
    reference: chr 5
allele count: 1
allele frequency: 9.165398786501201e-6
allele num: 109106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.173A>T
  hgvsp: ENSP00000393412.2:p.Tyr58Phe
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.173A>T
  hgvsp: ENSP00000397563.1:p.Tyr58Phe
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.173A>T
  hgvsp: ENSP00000396861.2:p.Tyr58Phe
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.173A>T
  hgvsp: ENSP00000296783.3:p.Tyr58Phe
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.470A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.173A>T
  hgvsp: ENSP00000421966.1:p.Tyr58Phe
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.330A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.463A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.464A>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr58Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-78915853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915853
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915853
    reference: chr 5
allele count: 1
allele frequency: 9.153820804803925e-6
allele num: 109244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.174T>C
  hgvsp: ENST00000296783.3:c.174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.174T>C
  hgvsp: ENST00000428308.2:c.174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.174T>C
  hgvsp: ENST00000423041.2:c.174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.464T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.471T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.174T>C
  hgvsp: ENST00000504233.1:c.174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.465T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.174T>C
  hgvsp: ENST00000453514.1:c.174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.331T>C
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37932
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr58Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-78915864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915864
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915864
    reference: chr 5
allele count: 1
allele frequency: 9.147791723078049e-6
allele num: 109316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.185G>A
  hgvsp: ENSP00000397563.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.185G>A
  hgvsp: ENSP00000393412.2:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.185G>A
  hgvsp: ENSP00000421966.1:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.342G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.482G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.185G>A
  hgvsp: ENSP00000396861.2:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.476G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.185G>A
  hgvsp: ENSP00000296783.3:p.Ser62Asn
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.475G>A
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser62Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-78915866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915866
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915866
    reference: chr 5
allele count: 1
allele frequency: 9.162711429566237e-6
allele num: 109138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.477C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.187C>T
  hgvsp: ENSP00000393412.2:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.187C>T
  hgvsp: ENSP00000421966.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.478C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.187C>T
  hgvsp: ENSP00000296783.3:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.187C>T
  hgvsp: ENSP00000396861.2:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.187C>T
  hgvsp: ENSP00000397563.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.344C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.484C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro63Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

5-78915869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915869
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915869
    reference: chr 5
allele count: 1
allele frequency: 9.154323587030154e-6
allele num: 109238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.190A>G
  hgvsp: ENSP00000421966.1:p.Ile64Val
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.190A>G
  hgvsp: ENSP00000296783.3:p.Ile64Val
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.190A>G
  hgvsp: ENSP00000396861.2:p.Ile64Val
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.487A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.480A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.190A>G
  hgvsp: ENSP00000393412.2:p.Ile64Val
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.347A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.190A>G
  hgvsp: ENSP00000397563.1:p.Ile64Val
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.481A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile64Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-78915876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915876
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915876
    reference: chr 5
allele count: 1
allele frequency: 9.257887720337728e-6
allele num: 108016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.197C>T
  hgvsp: ENSP00000393412.2:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.197C>T
  hgvsp: ENSP00000296783.3:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.197C>T
  hgvsp: ENSP00000421966.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.197C>T
  hgvsp: ENSP00000397563.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.488C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.494C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.197C>T
  hgvsp: ENSP00000396861.2:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.487C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.354C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr66Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-78915887-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915887
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915887
    reference: chr 5
allele count: 1
allele frequency: 9.476696802562499e-6
allele num: 105522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.365C>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.208C>G
  hgvsp: ENSP00000393412.2:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.208C>G
  hgvsp: ENSP00000396861.2:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.208C>G
  hgvsp: ENSP00000397563.1:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.498C>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.208C>G
  hgvsp: ENSP00000421966.1:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.499C>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.505C>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.208C>G
  hgvsp: ENSP00000296783.3:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro70Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

5-78915900-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915900
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915900
    reference: chr 5
allele count: 1
allele frequency: 1.006785735859694e-5
allele num: 99326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.221G>C
  hgvsp: ENSP00000396861.2:p.Gly74Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.512G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.518G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.221G>C
  hgvsp: ENSP00000393412.2:p.Gly74Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.221G>C
  hgvsp: ENSP00000421966.1:p.Gly74Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.221G>C
  hgvsp: ENSP00000296783.3:p.Gly74Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.221G>C
  hgvsp: ENSP00000397563.1:p.Gly74Ala
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.378G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.511G>C
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly74Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-78915908-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915908
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915908
    reference: chr 5
allele count: 1
allele frequency: 1.091369450386345e-5
allele num: 91628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+2T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+2T>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16029
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 6.75e1
  variant carriers: 0
hgvs: c.227+2T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-78915913-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915913
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915910
    reference: chr 5
allele count: 1
allele frequency: 1.146420874031274e-5
allele num: 87228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+11_227+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+11_227+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+11_384+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+11_524+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+11_518+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+11_227+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+11_227+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+11_227+13delCTT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+11_517+13delCTT
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17101
  bin: 6.25e1
  variant carriers: 0
hgvs: c.227+11_227+13delCTT
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: ACTT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

5-78915917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915917
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915917
    reference: chr 5
allele count: 28
allele frequency: 3.421059062141094e-4
allele num: 81846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+11C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+11C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20197
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-78915918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915918
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915918
    reference: chr 5
allele count: 1
allele frequency: 1.30698452530322e-5
allele num: 76512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+12T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+12T>C
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

5-78915919-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915919
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915917
    reference: chr 5
allele count: 10
allele frequency: 1.306472263593844e-4
allele num: 76542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+14_227+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+14_517+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+14_518+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+14_227+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+14_227+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+14_524+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+14_384+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+14_227+15delAA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+14_227+15delAA
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10388
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: TAA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS

5-78915923-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915923
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915923
    reference: chr 5
allele count: 10
allele frequency: 1.342642320085929e-4
allele num: 74480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+17T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+17T>A
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20586
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-78915932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915932
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915932
    reference: chr 5
allele count: 1
allele frequency: 1.542162729011165e-5
allele num: 64844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+26A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+26A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-78915933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915933
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915933
    reference: chr 5
allele count: 7
allele frequency: 1.139879498453021e-4
allele num: 61410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+27G>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+27G>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26223
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

5-78915957-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915957
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915957
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 38896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+51T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+51T>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

5-78915958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78915958
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78915958
    reference: chr 5
allele count: 1
allele frequency: 2.558722685635331e-5
allele num: 39082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.517+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.227+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.384+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.518+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000514095
  gene symbol: PAPD4
  hgvsc: ENST00000514095.1:n.524+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.227+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.227+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.227+52C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.227+52C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-78919031-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919031
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919030
    reference: chr 5
allele count: 1
allele frequency: 9.722897423432184e-6
allele num: 102850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-41delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-41delA
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: GA
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-78919040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919040
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919040
    reference: chr 5
allele count: 1
allele frequency: 9.513661618083569e-6
allele num: 105112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-35A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-35A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

5-78919056-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919055
    reference: chr 5
allele count: 416
allele frequency: 3.636808700365429e-3
allele num: 114386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-18delT
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-18delT
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41319
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44766
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 4
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: GT
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-78919060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919060
    reference: chr 5
allele count: 2
allele frequency: 1.720341315717038e-5
allele num: 116256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-15A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-15A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-78919060-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919060
    reference: chr 5
allele count: 2
allele frequency: 1.720341315717038e-5
allele num: 116256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-15A>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-15A>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

5-78919067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919067
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919067
    reference: chr 5
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.385-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.519-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.518-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.228-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.228-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.228-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.228-8G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.228-8G>A
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
hgvs: c.228-8G>A
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

5-78919075-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919075
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919074
    reference: chr 5
allele count: 1
allele frequency: 8.353381448810478e-6
allele num: 119712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.229delA
  hgvsp: ENSP00000393412.2:p.Arg77AspfsTer2
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.229delA
  hgvsp: ENSP00000421966.1:p.Arg77AspfsTer2
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.519delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.229delA
  hgvsp: ENSP00000296783.3:p.Arg77AspfsTer2
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.386delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.520delA
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.229delA
  hgvsp: ENSP00000397563.1:p.Arg77AspfsTer2
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.229delA
  hgvsp: ENSP00000396861.2:p.Arg77AspfsTer2
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg77AspfsTer2
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: GA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-78919080-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919080
    reference: chr 5
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.524T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.233T>A
  hgvsp: ENSP00000393412.2:p.Leu78Ter
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.390T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.233T>A
  hgvsp: ENSP00000397563.1:p.Leu78Ter
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.233T>A
  hgvsp: ENSP00000296783.3:p.Leu78Ter
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.523T>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.233T>A
  hgvsp: ENSP00000421966.1:p.Leu78Ter
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.233T>A
  hgvsp: ENSP00000396861.2:p.Leu78Ter
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu78Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

5-78919084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919084
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919084
    reference: chr 5
allele count: 3
allele frequency: 2.487892257679294e-5
allele num: 120584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.237C>T
  hgvsp: ENST00000296783.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.237C>T
  hgvsp: ENST00000504233.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.237C>T
  hgvsp: ENST00000423041.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.527C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.394C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.528C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.237C>T
  hgvsp: ENST00000453514.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.237C>T
  hgvsp: ENST00000428308.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser79Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-78919095-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919095
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919095
    reference: chr 5
allele count: 11
allele frequency: 9.07845435188089e-5
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.405A>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.539A>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.538A>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.248A>C
  hgvsp: ENSP00000421966.1:p.Asn83Thr
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.248A>C
  hgvsp: ENSP00000396861.2:p.Asn83Thr
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.248A>C
  hgvsp: ENSP00000296783.3:p.Asn83Thr
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.248A>C
  hgvsp: ENSP00000393412.2:p.Asn83Thr
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.248A>C
  hgvsp: ENSP00000397563.1:p.Asn83Thr
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn83Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-78919101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919101
    reference: chr 5
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.254C>T
  hgvsp: ENSP00000296783.3:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.254C>T
  hgvsp: ENSP00000396861.2:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.254C>T
  hgvsp: ENSP00000393412.2:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.254C>T
  hgvsp: ENSP00000397563.1:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.254C>T
  hgvsp: ENSP00000421966.1:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.544C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.545C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.411C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro85Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-78919102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919102
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919102
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.255T>C
  hgvsp: ENST00000428308.2:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.255T>C
  hgvsp: ENST00000423041.2:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.255T>C
  hgvsp: ENST00000296783.3:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.255T>C
  hgvsp: ENST00000504233.1:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.545T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.546T>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.255T>C
  hgvsp: ENST00000453514.1:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.412T>C
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro85Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

5-78919102-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919102
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919102
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.412T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.255T>G
  hgvsp: ENST00000296783.3:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.255T>G
  hgvsp: ENST00000453514.1:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.255T>G
  hgvsp: ENST00000423041.2:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.255T>G
  hgvsp: ENST00000504233.1:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.255T>G
  hgvsp: ENST00000428308.2:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.545T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.546T>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro85Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-78919104-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919104
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919104
    reference: chr 5
allele count: 142
allele frequency: 1.170805712212658e-3
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.257T>G
  hgvsp: ENSP00000296783.3:p.Leu86Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.257T>G
  hgvsp: ENSP00000393412.2:p.Leu86Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.547T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.414T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.548T>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.257T>G
  hgvsp: ENSP00000396861.2:p.Leu86Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.257T>G
  hgvsp: ENSP00000421966.1:p.Leu86Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.257T>G
  hgvsp: ENSP00000397563.1:p.Leu86Arg
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu86Arg
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

5-78919108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919108
    reference: chr 5
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.261C>T
  hgvsp: ENST00000504233.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.418C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.551C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.261C>T
  hgvsp: ENST00000423041.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.261C>T
  hgvsp: ENST00000296783.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.552C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.261C>T
  hgvsp: ENST00000453514.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.261C>T
  hgvsp: ENST00000428308.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50555
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp87Asp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-78919109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919109
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919109
    reference: chr 5
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.262G>A
  hgvsp: ENSP00000296783.3:p.Gly88Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.262G>A
  hgvsp: ENSP00000421966.1:p.Gly88Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.262G>A
  hgvsp: ENSP00000397563.1:p.Gly88Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.262G>A
  hgvsp: ENSP00000393412.2:p.Gly88Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.419G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.262G>A
  hgvsp: ENSP00000396861.2:p.Gly88Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.553G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.552G>A
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly88Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-78919109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919109
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919109
    reference: chr 5
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.262G>C
  hgvsp: ENSP00000393412.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.419G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.553G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.552G>C
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.262G>C
  hgvsp: ENSP00000421966.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.262G>C
  hgvsp: ENSP00000397563.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.262G>C
  hgvsp: ENSP00000296783.3:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.262G>C
  hgvsp: ENSP00000396861.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly88Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-78919115-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919115
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919115
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.268C>A
  hgvsp: ENST00000504233.1:c.268C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.268C>A
  hgvsp: ENST00000296783.3:c.268C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.558C>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.268C>A
  hgvsp: ENST00000423041.2:c.268C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.268C>A
  hgvsp: ENST00000428308.2:c.268C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.268C>A
  hgvsp: ENST00000453514.1:c.268C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.425C>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.559C>A
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg90Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

5-78919117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919117
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919117
    reference: chr 5
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.561G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.270G>A
  hgvsp: ENST00000423041.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.270G>A
  hgvsp: ENST00000296783.3:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.270G>A
  hgvsp: ENST00000453514.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.427G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.270G>A
  hgvsp: ENST00000504233.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.560G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.270G>A
  hgvsp: ENST00000428308.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg90Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-78919120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919120
    reference: chr 5
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.430A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.273A>G
  hgvsp: ENST00000423041.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.273A>G
  hgvsp: ENST00000296783.3:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.273A>G
  hgvsp: ENST00000428308.2:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.273A>G
  hgvsp: ENST00000504233.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.564A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.273A>G
  hgvsp: ENST00000453514.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.563A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln91Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

5-78919121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919121
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919121
    reference: chr 5
allele count: 15
allele frequency: 1.236053199729716e-4
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.274C>T
  hgvsp: ENSP00000397563.1:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.431C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.274C>T
  hgvsp: ENSP00000296783.3:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.274C>T
  hgvsp: ENSP00000393412.2:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.274C>T
  hgvsp: ENSP00000396861.2:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.274C>T
  hgvsp: ENSP00000421966.1:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.564C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.565C>T
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg92Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-78919128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919128
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919128
    reference: chr 5
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.281A>G
  hgvsp: ENSP00000397563.1:p.His94Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.281A>G
  hgvsp: ENSP00000393412.2:p.His94Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.281A>G
  hgvsp: ENSP00000296783.3:p.His94Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.438A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.281A>G
  hgvsp: ENSP00000421966.1:p.His94Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000515807
  gene symbol: PAPD4
  hgvsc: ENST00000515807.1:n.572A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.281A>G
  hgvsp: ENSP00000396861.2:p.His94Arg
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.571A>G
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His94Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

5-78919133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919133
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919133
    reference: chr 5
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.443C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.576C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.286C>T
  hgvsp: ENSP00000396861.2:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.286C>T
  hgvsp: ENSP00000397563.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.286C>T
  hgvsp: ENSP00000296783.3:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.286C>T
  hgvsp: ENSP00000421966.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.286C>T
  hgvsp: ENSP00000393412.2:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50667
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro96Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

5-78919134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919134
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919134
    reference: chr 5
allele count: 5
allele frequency: 4.119226903494752e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.287C>T
  hgvsp: ENSP00000396861.2:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.444C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000503620
  gene symbol: PAPD4
  hgvsc: ENST00000503620.1:n.577C>T
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.287C>T
  hgvsp: ENSP00000296783.3:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.287C>T
  hgvsp: ENSP00000393412.2:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.287C>T
  hgvsp: ENSP00000421966.1:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.287C>T
  hgvsp: ENSP00000397563.1:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50671
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro96Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

5-78919142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919142
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.295G>A
  hgvsp: ENSP00000393412.2:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.295G>A
  hgvsp: ENSP00000397563.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.295G>A
  hgvsp: ENSP00000396861.2:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.452G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.295G>A
  hgvsp: ENSP00000421966.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.295G>A
  hgvsp: ENSP00000296783.3:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu99Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-78919151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919151
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919151
    reference: chr 5
allele count: 14
allele frequency: 1.153326523214815e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.304G>A
  hgvsp: ENSP00000396861.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.461G>A
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.304G>A
  hgvsp: ENSP00000421966.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.304G>A
  hgvsp: ENSP00000397563.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.304G>A
  hgvsp: ENSP00000393412.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.304G>A
  hgvsp: ENSP00000296783.3:p.Val102Ile
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  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: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val102Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-78919157-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78919157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 78919157
    reference: chr 5
allele count: 24
allele frequency: 1.977098607793064e-4
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000396861
  ensembl transcript: ENST00000428308
  gene symbol: PAPD4
  hgvsc: ENST00000428308.2:c.310A>G
  hgvsp: ENSP00000396861.2:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000393412
  ensembl transcript: ENST00000423041
  gene symbol: PAPD4
  hgvsc: ENST00000423041.2:c.310A>G
  hgvsp: ENSP00000393412.2:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164329
  ensembl transcript: ENST00000505571
  gene symbol: PAPD4
  hgvsc: ENST00000505571.1:n.467A>G
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000421966
  ensembl transcript: ENST00000504233
  gene symbol: PAPD4
  hgvsc: ENST00000504233.1:c.310A>G
  hgvsp: ENSP00000421966.1:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000397563
  ensembl transcript: ENST00000453514
  gene symbol: PAPD4
  hgvsc: ENST00000453514.1:c.310A>G
  hgvsp: ENSP00000397563.1:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/26776
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164329
  ensembl protein: ENSP00000296783
  ensembl transcript: ENST00000296783
  gene symbol: PAPD4
  hgvsc: ENST00000296783.3:c.310A>G
  hgvsp: ENSP00000296783.3:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/26776
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn104Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

6-155126550-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126550
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126550
    reference: chr 6
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1109C>G
  hgvsp: ENSP00000356154.4:p.Ala370Gly
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.911C>G
  hgvsp: ENSP00000413098.1:p.Ala304Gly
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.911C>G
  hgvsp: ENSP00000356146.3:p.Ala304Gly
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7073
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala304Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-155126551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126551
    reference: chr 6
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1110A>G
  hgvsp: ENST00000367186.4:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.912A>G
  hgvsp: ENST00000417268.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.912A>G
  hgvsp: ENST00000367178.3:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala304Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

6-155126558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126558
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126558
    reference: chr 6
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1117C>T
  hgvsp: ENST00000367186.4:c.1117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.919C>T
  hgvsp: ENST00000367178.3:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.919C>T
  hgvsp: ENST00000417268.1:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu307Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/6-155126588-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126588
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126588
    reference: chr 6
allele count: 5
allele frequency: 4.127932896322837e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1147C>A
  hgvsp: ENSP00000356154.4:p.Gln383Lys
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.949C>A
  hgvsp: ENSP00000413098.1:p.Gln317Lys
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.949C>A
  hgvsp: ENSP00000356146.3:p.Gln317Lys
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln317Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

6-155126592-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126592
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126592
    reference: chr 6
allele count: 3
allele frequency: 2.476923330966496e-5
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.953A>G
  hgvsp: ENSP00000356146.3:p.Gln318Arg
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1151A>G
  hgvsp: ENSP00000356154.4:p.Gln384Arg
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.953A>G
  hgvsp: ENSP00000413098.1:p.Gln318Arg
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41565
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln318Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-155126594-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126594
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126594
    reference: chr 6
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.955C>G
  hgvsp: ENSP00000413098.1:p.Leu319Val
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.955C>G
  hgvsp: ENSP00000356146.3:p.Leu319Val
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1153C>G
  hgvsp: ENSP00000356154.4:p.Leu385Val
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu319Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

6-155126596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126596
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126596
    reference: chr 6
allele count: 3
allele frequency: 2.477005135657315e-5
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1155C>G
  hgvsp: ENST00000367186.4:c.1155C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.957C>G
  hgvsp: ENST00000367178.3:c.957C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.957C>G
  hgvsp: ENST00000417268.1:c.957C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu319Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

6-155126596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126596
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126596
    reference: chr 6
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.957C>T
  hgvsp: ENST00000367178.3:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1155C>T
  hgvsp: ENST00000367186.4:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.957C>T
  hgvsp: ENST00000417268.1:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu319Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-155126597-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126597
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126597
    reference: chr 6
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1156T>A
  hgvsp: ENSP00000356154.4:p.Leu386Met
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.958T>A
  hgvsp: ENSP00000413098.1:p.Leu320Met
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.958T>A
  hgvsp: ENSP00000356146.3:p.Leu320Met
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu320Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

6-155126599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126599
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126599
    reference: chr 6
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.960G>A
  hgvsp: ENST00000417268.1:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1158G>A
  hgvsp: ENST00000367186.4:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.960G>A
  hgvsp: ENST00000367178.3:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu320Leu
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: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

6-155126613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126613
    reference: chr 6
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1172C>T
  hgvsp: ENSP00000356154.4:p.Pro391Leu
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.974C>T
  hgvsp: ENSP00000356146.3:p.Pro325Leu
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.974C>T
  hgvsp: ENSP00000413098.1:p.Pro325Leu
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41464
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro325Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/6-155126629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126629
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126629
    reference: chr 6
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+9C>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+9C>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+9C>A
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25312
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7022
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-155126630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126630
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126630
    reference: chr 6
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+10C>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+10C>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+10C>A
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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 depth: GenotypeDepth
  all individuals: 610
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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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  bin: 9.75e1
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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: 564
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genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

6-155126630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126630
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126630
    reference: chr 6
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+10C>T
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+10C>T
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+10C>T
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.25e1
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genotype depth: GenotypeDepth
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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
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genotype depth: GenotypeDepth
  all individuals: 617
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 2.75e1
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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: 4938
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

6-155126634-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126634
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126634
    reference: chr 6
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+14T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+14T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+14T>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 610
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 377
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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  bin: 3.25e1
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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: 1883
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

6-155126646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126646
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126646
    reference: chr 6
allele count: 1
allele frequency: 8.401384548173538e-6
allele num: 119028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+26T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+26T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+26T>C
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

6-155126648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126648
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126648
    reference: chr 6
allele count: 2
allele frequency: 1.68239707935867e-5
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+28G>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+28G>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+28G>A
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1158
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34676
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

6-155126654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155126654
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155126654
    reference: chr 6
allele count: 3
allele frequency: 2.539962069899756e-5
allele num: 118112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1179+34T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.981+34T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.981+34T>C
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 5015
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genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3476
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genotype quality: GenotypeQuality
  all individuals: 5270
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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: 532
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

6-155129153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129153
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129153
    reference: chr 6
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-51A>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-51A>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-51A>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
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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  variant carriers: 0
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: 636
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-155129158-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129158
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129158
    reference: chr 6
allele count: 226
allele frequency: 1.873217956368941e-3
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-46A>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-46A>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-46A>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 302
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 374
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12291
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  variant carriers: 224
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20091
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 2
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-155129162-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129162
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129162
    reference: chr 6
allele count: 8
allele frequency: 6.629321488945607e-5
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-42A>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-42A>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-42A>C
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-155129167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129167
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129167
    reference: chr 6
allele count: 4
allele frequency: 3.31394674487581e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-37C>T
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-37C>T
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-37C>T
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12115
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-155129172-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129172
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129172
    reference: chr 6
allele count: 2
allele frequency: 1.655409879486161e-5
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-32A>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-32A>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-32A>C
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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
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genotype quality: GenotypeQuality
  all individuals: 12107
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

6-155129177-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129177
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129177
    reference: chr 6
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-27T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-27T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-27T>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2798
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-155129178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129178
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129178
    reference: chr 6
allele count: 4
allele frequency: 3.30698766493601e-5
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-26T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-26T>C
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-26T>C
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12103
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

6-155129182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129182
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129182
    reference: chr 6
allele count: 9
allele frequency: 7.436910211704044e-5
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-22T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-22T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-22T>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-155129183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129183
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129183
    reference: chr 6
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-21G>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-21G>A
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-21G>A
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12098
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

6-155129185-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 155129185
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 155129185
    reference: chr 6
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356154
  ensembl transcript: ENST00000367186
  gene symbol: SCAF8
  hgvsc: ENST00000367186.4:c.1180-19T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000356146
  ensembl transcript: ENST00000367178
  gene symbol: SCAF8
  hgvsc: ENST00000367178.3:c.982-19T>G
  variant of: http://identifiers.org/hgnc/20959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213079
  ensembl protein: ENSP00000413098
  ensembl transcript: ENST00000417268
  gene symbol: SCAF8
  hgvsc: ENST00000417268.1:c.982-19T>G
  variant of: http://identifiers.org/hgnc/20959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7037
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.619886137958427e-5
allele num: 15106
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 1.374639e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

GenotypeQuality
all individuals: 755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706892431638958e-5
allele num: 58586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.374471e6

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 791
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.624271330153684e-5
allele num: 15096
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 2.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

DP
type: SiteQuality
SIO_000300: 1.373723e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15080
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709051134809954e-5
allele num: 58512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.371213e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 9.23e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10808
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: 1
allele frequency: 1.70695070326369e-5
allele num: 58584
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.371333e6

MQ
type: SiteQuality
SIO_000300: 5.716e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732861994870729e-5
allele num: 57708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.86e1

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

DP
type: SiteQuality
SIO_000300: 1.351738e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.105216622458002e-4
allele num: 9048
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.314608e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.910949742021785e-5
allele num: 52330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.893e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.793e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

African
type: Population
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South Asian
type: Population
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Other
type: Population
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European (Non-Finnish)
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allele count: 1
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allele num: 47962
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Latino
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East Asian
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

African
type: Population
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Other
type: Population
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.193559708695271e-5
allele num: 45588
num of homozygotes: 0

East Asian
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.703668861712135e-5
allele num: 42520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 3.600230414746544e-3
allele num: 6944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.240079365079365e-4
allele num: 8064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

FS
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 9.59905e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.540521314973833e-5
allele num: 39362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 7.938e0

DP
type: SiteQuality
SIO_000300: 9.08644e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1770
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.538844318066416e-4
allele num: 39388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 9.07173e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.584e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.775e1

FS
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.626326294778863e-4
allele num: 38076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.772e1

MQ
type: SiteQuality
SIO_000300: 5.794e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 3.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 8.85688e5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2352
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GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.29147571035747e-4
allele num: 4364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

FS
type: SiteQuality
SIO_000300: 3.074e0

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.02673e5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 367
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GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 9.674298613350532e-4
allele num: 6202
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.49003984063745e-4
allele num: 4016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 7.81931e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 6.63461e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.19e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.613562366677894e-5
allele num: 17814
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 6.64159e5

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 970
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GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.33155792276964e-4
allele num: 7510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.126494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 6643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12846
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.475080538184574e-5
allele num: 10554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.226613e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.716e0

VQSLOD
type: SiteQuality
SIO_000300: -8.263e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.046e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

FS
type: SiteQuality
SIO_000300: 2.483e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 9.75e1
variant carriers: 409

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.504672897196262e-3
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.888402316711399e-4
allele num: 14158
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 28
allele frequency: 4.277421326000611e-3
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 360
allele frequency: 5.681818181818182e-3
allele num: 63360
num of homozygotes: 3

African
type: Population
allele count: 4
allele frequency: 3.999200159968006e-4
allele num: 10002
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.235524674861928e-4
allele num: 11226
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 2.236e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.387083e6

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

MQ
type: SiteQuality
SIO_000300: 6.034e1

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2154
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.106361829025845e-5
allele num: 64384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 1.405691e6

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

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.97199763360284e-4
allele num: 10142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.754e0

DP
type: SiteQuality
SIO_000300: 1.405691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4178
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

FS
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.430923e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 7.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 1.448198e6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.46e-1

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.230529595015576e-5
allele num: 16050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.881e-1

DP
type: SiteQuality
SIO_000300: 1.454832e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 6.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 3

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
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: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.142e0

DP
type: SiteQuality
SIO_000300: 1.46137e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e0

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
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GenotypeQuality
all individuals: 4370
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
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GenotypeQuality
all individuals: 50405
bin: 6.25e1
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GenotypeQuality
all individuals: 2162
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variant carriers: 11

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 1125
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GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
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GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.857906242409522e-4
allele num: 16468
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: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 3.505e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.466422e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.028e0

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 3.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.467753e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
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: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.467795e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.467795e6

GenotypeQuality
all individuals: 2283
bin: 9.75e1
variant carriers: 141

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.245087156100927e-3
allele num: 66662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 59
allele frequency: 8.923169993950392e-3
allele num: 6612
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 1.476968e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.375e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2149
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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 10398
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.143e1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 7.425e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.469892e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 8652
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.470038e6

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

FS
type: SiteQuality
SIO_000300: 2.906e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 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: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
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: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 2.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.470038e6

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

European (Finnish)
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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: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.126e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.47006e6

QD
type: SiteQuality
SIO_000300: 1.635e1

VQSLOD
type: SiteQuality
SIO_000300: -9.469e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.152e0

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.470341e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 4397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 1.588e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.470212e6

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.511944360447536e-3
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.471284e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

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

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

GenotypeQuality
all individuals: 12
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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
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.118e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -3.789e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 1.469e0

QD
type: SiteQuality
SIO_000300: 9.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

DP
type: SiteQuality
SIO_000300: 1.470484e6

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

GenotypeQuality
all individuals: 1116
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.471196e6

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 627
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variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.75e1
variant carriers: 5

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.846153846153846e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 1.471222e6

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.470674e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.85e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 625
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 986
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variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 9.75e1
variant carriers: 14

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.472119e6

FS
type: SiteQuality
SIO_000300: 1.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.321e0

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

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

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
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GenotypeQuality
all individuals: 1116
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variant carriers: 0

GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 50683
bin: 6.25e1
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GenotypeQuality
all individuals: 2166
bin: 9.75e1
variant carriers: 24

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

Latino
type: Population
allele count: 0
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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.773925104022191e-3
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 1.473922e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

GenotypeQuality
all individuals: 1929
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.562e0

DP
type: SiteQuality
SIO_000300: 1.761208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
all individuals: 7086
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

DP
type: SiteQuality
SIO_000300: 1.76118e6

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 2228
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.202e0

QD
type: SiteQuality
SIO_000300: 6.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.075e-1

DP
type: SiteQuality
SIO_000300: 1.76176e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.357678229039568e-4
allele num: 11474
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.763752e6

FS
type: SiteQuality
SIO_000300: 6.427e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 3
allele frequency: 4.501935832407936e-5
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.76363e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.0199e1

VQSLOD
type: SiteQuality
SIO_000300: -5.865e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

DP
type: SiteQuality
SIO_000300: 1.763695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
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: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.763683e6

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.763683e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.763459e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.42e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

FS
type: SiteQuality
SIO_000300: 2.351e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

Other
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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: 10396
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
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

FS
type: SiteQuality
SIO_000300: 1.641e0

DP
type: SiteQuality
SIO_000300: 1.763433e6

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

African
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allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.784e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.549e0

DP
type: SiteQuality
SIO_000300: 1.762059e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.755199e6

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 2.593e0

VQSLOD
type: SiteQuality
SIO_000300: -7.802e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

FS
type: SiteQuality
SIO_000300: 1.3229e1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 1.754336e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.754336e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 1.3229e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.812125484666901e-5
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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variant carriers: 2

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.763668430335097e-4
allele num: 11340
num of homozygotes: 0

European (Finnish)
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South Asian
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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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European (Non-Finnish)
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ReadPosRankSum
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FS
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VQSLOD
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DP
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 3.048780487804878e-4
allele num: 9840
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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MQRankSum
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MQ
type: SiteQuality
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.010597302504817e-5
allele num: 66432
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East Asian
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African
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South Asian
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 3.024803387779794e-3
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 1.73460537727667e-4
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European (Non-Finnish)
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allele count: 203
allele frequency: 3.054193121295098e-3
allele num: 66466
num of homozygotes: 2

South Asian
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Other
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allele frequency: 1.111111111111111e-3
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 7.690828686791001e-4
allele num: 10402
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66474
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South Asian
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allele count: 0
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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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
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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South Asian
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allele frequency: 2.476780185758514e-4
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Other
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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South Asian
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allele frequency: 6.159152500615915e-5
allele num: 16236
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503578516870151e-5
allele num: 66508
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African
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num of homozygotes: 0

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

European (Finnish)
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 1.502945773716484e-5
allele num: 66536
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Other
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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Latino
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African
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allele frequency: 3.845414343395501e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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Other
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South Asian
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.352000961422906e-4
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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QD
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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FS
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MQRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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