17-79974369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974369
    reference: chr 17
allele count: 4
allele frequency: 2.122241086587436e-4
allele num: 18848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.187C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.218C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3260C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5130C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1261C>T
  hgvsp: ENSP00000463992.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2040C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1371C>T
  hgvsp: ENST00000306739.4:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1215C>T
  hgvsp: ENST00000580534.1:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.283C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.161C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2833C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1653C>T
  hgvsp: ENST00000306729.7:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.858C>T
  hgvsp: ENST00000582355.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.133C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.192C>T
  hgvsp: ENST00000583744.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg421Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79974370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974370
    reference: chr 17
allele count: 25
allele frequency: 1.311922753988245e-3
allele num: 19056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.162G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5131G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.859G>A
  hgvsp: ENSP00000462218.2:p.Ala287Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.188G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1262G>A
  hgvsp: ENSP00000463992.1:p.Arg421His
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2834G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1216G>A
  hgvsp: ENSP00000462329.1:p.Ala406Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.284G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.134G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1654G>A
  hgvsp: ENSP00000306625.7:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1372G>A
  hgvsp: ENSP00000302176.4:p.Ala458Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.193G>A
  hgvsp: ENSP00000461980.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2041G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.219G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3261G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33820
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ala552Thr
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-79974370-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974370
    reference: chr 17
allele count: 3
allele frequency: 1.574307304785894e-4
allele num: 19056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.859G>T
  hgvsp: ENSP00000462218.2:p.Ala287Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.219G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1654G>T
  hgvsp: ENSP00000306625.7:p.Ala552Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.162G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2041G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1372G>T
  hgvsp: ENSP00000302176.4:p.Ala458Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5131G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2834G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.188G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.193G>T
  hgvsp: ENSP00000461980.1:p.Ala65Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1262G>T
  hgvsp: ENSP00000463992.1:p.Arg421Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.134G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3261G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.284G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1216G>T
  hgvsp: ENSP00000462329.1:p.Ala406Ser
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33820
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala552Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79974390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974390
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1392C>T
  hgvsp: ENST00000306739.4:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.213C>T
  hgvsp: ENST00000583744.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2854C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.304C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.879C>T
  hgvsp: ENST00000582355.2:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1236C>T
  hgvsp: ENST00000580534.1:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.182C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2061C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.239C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1674C>T
  hgvsp: ENST00000306729.7:c.1674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1282C>T
  hgvsp: ENSP00000463992.1:p.Arg428Ter
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5151C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.208C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3281C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.154C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg428Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79974398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974398
    reference: chr 17
allele count: 10
allele frequency: 4.990518015770037e-4
allele num: 20038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.887C>T
  hgvsp: ENSP00000462218.2:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.221C>T
  hgvsp: ENSP00000461980.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.162C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2862C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.312C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1290C>T
  hgvsp: ENST00000584454.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2069C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.216C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1244C>T
  hgvsp: ENSP00000462329.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.247C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1682C>T
  hgvsp: ENSP00000306625.7:p.Pro561Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3289C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.190C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1400C>T
  hgvsp: ENSP00000302176.4:p.Pro467Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5159C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro561Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

17-79974399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974399
    reference: chr 17
allele count: 1
allele frequency: 4.984547901505333e-5
allele num: 20062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1291G>A
  hgvsp: ENSP00000463992.1:p.Gly431Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2863G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1245G>A
  hgvsp: ENST00000580534.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.222G>A
  hgvsp: ENST00000583744.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.313G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5160G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1401G>A
  hgvsp: ENST00000306739.4:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.191G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.217G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.163G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2070G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3290G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.888G>A
  hgvsp: ENST00000582355.2:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1683G>A
  hgvsp: ENST00000306729.7:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.248G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly431Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

17-79974402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974402
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 20106
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1686A>G
  hgvsp: ENST00000306729.7:c.1686A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1248A>G
  hgvsp: ENST00000580534.1:c.1248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2866A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1404A>G
  hgvsp: ENST00000306739.4:c.1404A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.251A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3293A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2073A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.166A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5163A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.316A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.225A>G
  hgvsp: ENST00000583744.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1294A>G
  hgvsp: ENSP00000463992.1:p.Arg432Gly
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.220A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.194A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.891A>G
  hgvsp: ENST00000582355.2:c.891A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg432Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

17-79974420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974420
    reference: chr 17
allele count: 2
allele frequency: 9.920634920634921e-5
allele num: 20160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5164+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.195+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.334G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.226+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2074+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1405+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.167+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.252+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3311G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.221+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2867+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1295+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1249+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.892+17G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1687+17G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

17-79974431-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974431
    reference: chr 17
allele count: 2
allele frequency: 9.963136395337252e-5
allele num: 20074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.892+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.252+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5164+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.167+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3322C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.221+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.345C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1295+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.195+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.226+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2074+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1405+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1687+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1249+28C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2867+28C>G
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-79974431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974431
    reference: chr 17
allele count: 2
allele frequency: 9.963136395337252e-5
allele num: 20074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1249+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3322C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2867+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1405+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5164+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1295+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1687+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.226+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.892+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.167+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.345C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2074+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.221+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.195+28C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.252+28C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79974625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974625
    reference: chr 17
allele count: 1
allele frequency: 1.138563133325743e-5
allele num: 87830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.539G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3516G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-51G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-51G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-79974636-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974636
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 89054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3527C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.550C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-40C>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-40C>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

17-79974637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974637
    reference: chr 17
allele count: 1
allele frequency: 1.120423071751894e-5
allele num: 89252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.551C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3528C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-39C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-39C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-79974639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974639
    reference: chr 17
allele count: 1
allele frequency: 1.116619768636384e-5
allele num: 89556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.553C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3530C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-37C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-37C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79974646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974646
    reference: chr 17
allele count: 1
allele frequency: 1.093350243817104e-5
allele num: 91462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3537G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.560G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-30G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-30G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79974656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974656
    reference: chr 17
allele count: 5
allele frequency: 5.125471543381991e-5
allele num: 97552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.570G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3547G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-20G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-20G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25526
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79974660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974660
    reference: chr 17
allele count: 1
allele frequency: 1.000580336595225e-5
allele num: 99942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3551T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.574T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-16T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-16T>C
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-79974662-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974662
    reference: chr 17
allele count: 1
allele frequency: 9.895895182678224e-6
allele num: 101052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3553G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.576G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-14G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-14G>C
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28985
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-79974665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974665
    reference: chr 17
allele count: 1
allele frequency: 9.705345704413991e-6
allele num: 103036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.579C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3556C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-11C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-11C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-79974670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974670
    reference: chr 17
allele count: 301
allele frequency: 2.835182638509504e-3
allele num: 106166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1406-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5165-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3561C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.222-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.253-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.584C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1250-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.168-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.893-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2075-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2868-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.196-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.227-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1688-6C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1296-6C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
hgvs: c.1688-6C>T
num of homozygotes: 5
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-79974680-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974680
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974680
    reference: chr 17
allele count: 259
allele frequency: 2.333669718157572e-3
allele num: 110984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1254C>G
  hgvsp: ENST00000580534.1:c.1254C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.897C>G
  hgvsp: ENST00000582355.2:c.897C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.172C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.231C>G
  hgvsp: ENST00000583744.1:c.231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1692C>G
  hgvsp: ENST00000306729.7:c.1692C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2079C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.200C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3571C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1300C>G
  hgvsp: ENSP00000463992.1:p.Leu434Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2872C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.226C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.594C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5169C>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1410C>G
  hgvsp: ENST00000306739.4:c.1410C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.257C>G
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu434Val
num of homozygotes: 5
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-79974684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974684
    reference: chr 17
allele count: 5
allele frequency: 4.451249910975002e-5
allele num: 112328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1414C>T
  hgvsp: ENST00000306739.4:c.1414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2876C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.176C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1696C>T
  hgvsp: ENST00000306729.7:c.1696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1304C>T
  hgvsp: ENSP00000463992.1:p.Pro435Leu
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1258C>T
  hgvsp: ENST00000580534.1:c.1258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.235C>T
  hgvsp: ENST00000583744.1:c.235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.230C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.901C>T
  hgvsp: ENST00000582355.2:c.901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5173C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.598C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2083C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.261C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3575C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.204C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35968
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro435Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-79974694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974694
    reference: chr 17
allele count: 1
allele frequency: 8.66836566633727e-6
allele num: 115362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.245G>T
  hgvsp: ENSP00000461980.1:p.Gly82Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1424G>T
  hgvsp: ENSP00000302176.4:p.Gly475Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1314G>T
  hgvsp: ENSP00000463992.1:p.Trp438Cys
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2093G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3585G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.608G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.186G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.214G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1706G>T
  hgvsp: ENSP00000306625.7:p.Gly569Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.911G>T
  hgvsp: ENSP00000462218.2:p.Gly304Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.240G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2886G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5183G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.271G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1268G>T
  hgvsp: ENSP00000462329.1:p.Gly423Val
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly569Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-79974697-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974697
    reference: chr 17
allele count: 1
allele frequency: 8.619500758516067e-6
allele num: 116016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.274T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.914T>G
  hgvsp: ENSP00000462218.2:p.Leu305Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.217T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.243T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2889T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.189T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1317T>G
  hgvsp: ENST00000584454.1:c.1317T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1427T>G
  hgvsp: ENSP00000302176.4:p.Leu476Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3588T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.248T>G
  hgvsp: ENSP00000461980.1:p.Leu83Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2096T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1271T>G
  hgvsp: ENSP00000462329.1:p.Leu424Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1709T>G
  hgvsp: ENSP00000306625.7:p.Leu570Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5186T>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.611T>G
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu570Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

17-79974703-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974703
    reference: chr 17
allele count: 2
allele frequency: 1.708379601947553e-5
allele num: 117070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1323A>T
  hgvsp: ENST00000584454.1:c.1323A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.223A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.280A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.920A>T
  hgvsp: ENSP00000462218.2:p.Glu307Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.617A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1715A>T
  hgvsp: ENSP00000306625.7:p.Glu572Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2102A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.195A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1277A>T
  hgvsp: ENSP00000462329.1:p.Glu426Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5192A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1433A>T
  hgvsp: ENSP00000302176.4:p.Glu478Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2895A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.249A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3594A>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.254A>T
  hgvsp: ENSP00000461980.1:p.Glu85Val
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu572Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-79974704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974704
    reference: chr 17
allele count: 1
allele frequency: 8.532714427113554e-6
allele num: 117196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1434G>A
  hgvsp: ENST00000306739.4:c.1434G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2896G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.618G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.921G>A
  hgvsp: ENST00000582355.2:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3595G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5193G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1278G>A
  hgvsp: ENST00000580534.1:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.250G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1324G>A
  hgvsp: ENSP00000463992.1:p.Ala442Thr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1716G>A
  hgvsp: ENST00000306729.7:c.1716G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.281G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.196G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.224G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.255G>A
  hgvsp: ENST00000583744.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2103G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala442Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-79974724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974724
    reference: chr 17
allele count: 179
allele frequency: 1.510548523206751e-3
allele num: 118500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1344C>T
  hgvsp: ENST00000584454.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3615C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.638C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.941C>T
  hgvsp: ENSP00000462218.2:p.Ala314Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.270C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.275C>T
  hgvsp: ENSP00000461980.1:p.Ala92Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1454C>T
  hgvsp: ENSP00000302176.4:p.Ala485Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1298C>T
  hgvsp: ENSP00000462329.1:p.Ala433Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.216C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2123C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2916C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1736C>T
  hgvsp: ENSP00000306625.7:p.Ala579Val
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.244C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5213C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.301C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36982
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Ala579Val
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-79974725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974725
    reference: chr 17
allele count: 3
allele frequency: 2.529553618104858e-5
allele num: 118598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.276G>A
  hgvsp: ENST00000583744.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.639G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1455G>A
  hgvsp: ENST00000306739.4:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.245G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2917G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1299G>A
  hgvsp: ENST00000580534.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.302G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2124G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1737G>A
  hgvsp: ENST00000306729.7:c.1737G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.942G>A
  hgvsp: ENST00000582355.2:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5214G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1345G>A
  hgvsp: ENSP00000463992.1:p.Gly449Ser
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.217G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3616G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.271G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly449Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-79974728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974728
    reference: chr 17
allele count: 10
allele frequency: 8.423464402439435e-5
allele num: 118716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1348C>T
  hgvsp: ENSP00000463992.1:p.Arg450Ter
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2127C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.945C>T
  hgvsp: ENST00000582355.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1740C>T
  hgvsp: ENST00000306729.7:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.305C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.279C>T
  hgvsp: ENST00000583744.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5217C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1458C>T
  hgvsp: ENST00000306739.4:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.248C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.274C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.220C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.642C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2920C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1302C>T
  hgvsp: ENST00000580534.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3619C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg450Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-79974729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974729
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974729
    reference: chr 17
allele count: 6
allele frequency: 5.050845174759243e-5
allele num: 118792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.946G>A
  hgvsp: ENSP00000462218.2:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1459G>A
  hgvsp: ENSP00000302176.4:p.Asp487Asn
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1349G>A
  hgvsp: ENSP00000463992.1:p.Arg450Gln
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1741G>A
  hgvsp: ENSP00000306625.7:p.Asp581Asn
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3620G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2921G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.306G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.280G>A
  hgvsp: ENSP00000461980.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5218G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1303G>A
  hgvsp: ENSP00000462329.1:p.Asp435Asn
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.221G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.643G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.249G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2128G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.275G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp581Asn
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-79974731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974731
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974731
    reference: chr 17
allele count: 70641
allele frequency: 5.906438127090301e-1
allele num: 119600
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1743T>C
  hgvsp: ENST00000306729.7:c.1743T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.277T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.645T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1305T>C
  hgvsp: ENST00000580534.1:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.251T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.308T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1461T>C
  hgvsp: ENST00000306739.4:c.1461T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2923T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5220T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3622T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.282T>C
  hgvsp: ENST00000583744.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1351T>C
  hgvsp: ENSP00000463992.1:p.Cys451Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.223T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2130T>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.948T>C
  hgvsp: ENST00000582355.2:c.948T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.25e1
  variant carriers: 1070
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 6.25e1
  variant carriers: 4112
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 2324
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 5.75e1
  variant carriers: 4534
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 8.75e1
  variant carriers: 1372
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 3477
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 2.75e1
  variant carriers: 1688
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 8.25e1
  variant carriers: 1717
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 2507
genotype quality: GenotypeQuality
hgvs: p.Cys451Arg
num of homozygotes: 21607
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-79974732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974732
    reference: chr 17
allele count: 2
allele frequency: 1.671458180116333e-5
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1462G>A
  hgvsp: ENSP00000302176.4:p.Val488Met
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.949G>A
  hgvsp: ENSP00000462218.2:p.Val317Met
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.278G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1744G>A
  hgvsp: ENSP00000306625.7:p.Val582Met
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2924G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.283G>A
  hgvsp: ENSP00000461980.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.646G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.224G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.252G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5221G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.309G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2131G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1352G>A
  hgvsp: ENSP00000463992.1:p.Cys451Tyr
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1306G>A
  hgvsp: ENSP00000462329.1:p.Val436Met
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3623G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val582Met
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-79974744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974744
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974744
    reference: chr 17
allele count: 1
allele frequency: 8.358827757995218e-6
allele num: 119634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1364A>G
  hgvsp: ENSP00000463992.1:p.Gln455Arg
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2143A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.295A>G
  hgvsp: ENSP00000461980.1:p.Arg99Gly
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.236A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.321A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1318A>G
  hgvsp: ENSP00000462329.1:p.Arg440Gly
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.658A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1474A>G
  hgvsp: ENSP00000302176.4:p.Arg492Gly
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.264A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2936A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3635A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1756A>G
  hgvsp: ENSP00000306625.7:p.Arg586Gly
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.290A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5233A>G
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.961A>G
  hgvsp: ENSP00000462218.2:p.Arg321Gly
  variant of: http://identifiers.org/hgnc/13825
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg586Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-79974754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974754
    reference: chr 17
allele count: 5
allele frequency: 4.181301220939956e-5
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5234+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.265+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.237+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1365+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.296+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3645C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1757+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2144+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.668C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.291+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1475+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1319+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.962+9C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2946C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.322+9C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17468
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-79974755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
allele count: 9
allele frequency: 7.526468079412601e-5
allele num: 119578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.322+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.669G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.296+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1319+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2947G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3646G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1757+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.962+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.237+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.265+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1365+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5234+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2144+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1475+10G>A
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.291+10G>A
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

17-79974755-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
allele count: 15
allele frequency: 1.254411346568767e-4
allele num: 119578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5234+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.296+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1365+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1475+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.265+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.291+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.237+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1757+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3646G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2947G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1319+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.322+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2144+10G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.669G>C
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.962+10G>C
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-79974755-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974755
    reference: chr 17
allele count: 1
allele frequency: 8.362742310458446e-6
allele num: 119578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.296+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3646G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2947G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5234+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.669G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.265+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.237+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1475+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1319+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.322+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1757+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.291+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.962+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1365+10G>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2144+10G>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

17-79974769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79974769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79974769
    reference: chr 17
allele count: 7
allele frequency: 5.858230814294083e-5
allele num: 119490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462218
  ensembl transcript: ENST00000582355
  gene symbol: ASPSCR1
  hgvsc: ENST00000582355.2:c.962+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000577733
  gene symbol: ASPSCR1
  hgvsc: ENST00000577733.1:n.5234+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000582404
  gene symbol: ASPSCR1
  hgvsc: ENST00000582404.1:n.265+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578361
  gene symbol: ASPSCR1
  hgvsc: ENST00000578361.1:n.322+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585274
  gene symbol: ASPSCR1
  hgvsc: ENST00000585274.1:n.683C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583693
  gene symbol: ASPSCR1
  hgvsc: ENST00000583693.1:n.3660C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000585140
  gene symbol: ASPSCR1
  hgvsc: ENST00000585140.1:n.237+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000578236
  gene symbol: ASPSCR1
  hgvsc: ENST00000578236.1:n.2961C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000462329
  ensembl transcript: ENST00000580534
  gene symbol: ASPSCR1
  hgvsc: ENST00000580534.1:c.1319+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000461980
  ensembl transcript: ENST00000583744
  gene symbol: ASPSCR1
  hgvsc: ENST00000583744.1:c.296+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000463992
  ensembl transcript: ENST00000584454
  gene symbol: ASPSCR1
  hgvsc: ENST00000584454.1:c.1365+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000581608
  gene symbol: ASPSCR1
  hgvsc: ENST00000581608.1:n.2144+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl transcript: ENST00000583142
  gene symbol: ASPSCR1
  hgvsc: ENST00000583142.1:n.291+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000306625
  ensembl transcript: ENST00000306729
  gene symbol: ASPSCR1
  hgvsc: ENST00000306729.7:c.1757+24C>T
  variant of: http://identifiers.org/hgnc/13825
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169696
  ensembl protein: ENSP00000302176
  ensembl transcript: ENST00000306739
  gene symbol: ASPSCR1
  hgvsc: ENST00000306739.4:c.1475+24C>T
  variant of: http://identifiers.org/hgnc/13825
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-56140633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140633
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140633
    reference: chr 20
allele count: 179
allele frequency: 1.476702745512144e-3
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4284G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.691G>A
  hgvsp: ENSP00000445767.1:p.Ala231Thr
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1642G>A
  hgvsp: ENSP00000319814.4:p.Ala548Thr
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala548Thr
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

20-56140635-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140635
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140635
    reference: chr 20
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4286C>G
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1644C>G
  hgvsp: ENST00000319441.4:c.1644C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.693C>G
  hgvsp: ENST00000543666.1:c.693C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala548Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

20-56140640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140640
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140640
    reference: chr 20
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1649C>T
  hgvsp: ENSP00000319814.4:p.Thr550Ile
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4291C>T
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.698C>T
  hgvsp: ENSP00000445767.1:p.Thr233Ile
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr550Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

20-56140649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140649
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140649
    reference: chr 20
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.707C>T
  hgvsp: ENSP00000445767.1:p.Thr236Met
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1658C>T
  hgvsp: ENSP00000319814.4:p.Thr553Met
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4300C>T
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46973
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr553Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

20-56140650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140650
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140650
    reference: chr 20
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1659G>A
  hgvsp: ENST00000319441.4:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4301G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.708G>A
  hgvsp: ENST00000543666.1:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14284
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11297
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr553Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-56140662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140662
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140662
    reference: chr 20
allele count: 4
allele frequency: 3.303873792021145e-5
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.720C>G
  hgvsp: ENSP00000445767.1:p.Tyr240Ter
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1671C>G
  hgvsp: ENSP00000319814.4:p.Tyr557Ter
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4313C>G
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr557Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/20-56140665-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140665
    reference: chr 20
allele count: 27
allele frequency: 2.230520124248232e-4
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4316C>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.723C>A
  hgvsp: ENST00000543666.1:c.723C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1674C>A
  hgvsp: ENST00000319441.4:c.1674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 46915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile558Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

20-56140665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140665
    reference: chr 20
allele count: 434
allele frequency: 3.585354570087899e-3
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4316C>T
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.723C>T
  hgvsp: ENST00000543666.1:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1674C>T
  hgvsp: ENST00000319441.4:c.1674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 32103
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 46915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 427
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile558Ile
num of homozygotes: 7
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

20-56140667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140667
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140667
    reference: chr 20
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.725C>T
  hgvsp: ENSP00000445767.1:p.Pro242Leu
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1676C>T
  hgvsp: ENSP00000319814.4:p.Pro559Leu
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4318C>T
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro559Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/20-56140669-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140669
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140669
    reference: chr 20
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4320A>C
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.727A>C
  hgvsp: ENSP00000445767.1:p.Lys243Gln
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1678A>C
  hgvsp: ENSP00000319814.4:p.Lys560Gln
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys560Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-56140675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140675
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140675
    reference: chr 20
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.733G>A
  hgvsp: ENSP00000445767.1:p.Asp245Asn
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1684G>A
  hgvsp: ENSP00000319814.4:p.Asp562Asn
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4326G>A
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp562Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-56140699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140699
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140699
    reference: chr 20
allele count: 2
allele frequency: 1.656479318855704e-5
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.757G>A
  hgvsp: ENSP00000445767.1:p.Gly253Arg
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4350G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1708G>A
  hgvsp: ENSP00000319814.4:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly570Arg
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

20-56140701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140701
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140701
    reference: chr 20
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.759G>A
  hgvsp: ENST00000543666.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4352G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1710G>A
  hgvsp: ENST00000319441.4:c.1710G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly570Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

20-56140711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140711
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140711
    reference: chr 20
allele count: 19
allele frequency: 1.575456053067993e-4
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1720A>G
  hgvsp: ENSP00000319814.4:p.Met574Val
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.769A>G
  hgvsp: ENSP00000445767.1:p.Met257Val
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4362A>G
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met574Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

20-56140714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140714
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140714
    reference: chr 20
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.772A>G
  hgvsp: ENSP00000445767.1:p.Met258Val
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1723A>G
  hgvsp: ENSP00000319814.4:p.Met575Val
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4365A>G
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47071
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met575Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-56140722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140722
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140722
    reference: chr 20
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4373T>C
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.780T>C
  hgvsp: ENST00000543666.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1731T>C
  hgvsp: ENST00000319441.4:c.1731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu577Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/20-56140726-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140726
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140726
    reference: chr 20
allele count: 345
allele frequency: 2.866019804612215e-3
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1735A>C
  hgvsp: ENSP00000319814.4:p.Ser579Arg
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.784A>C
  hgvsp: ENSP00000445767.1:p.Ser262Arg
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4377A>C
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 32188
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 336
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser579Arg
num of homozygotes: 8
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-56140729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140729
    reference: chr 20
allele count: 2
allele frequency: 1.662068277764851e-5
allele num: 120332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4380A>G
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.787A>G
  hgvsp: ENSP00000445767.1:p.Ile263Val
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1738A>G
  hgvsp: ENSP00000319814.4:p.Ile580Val
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile580Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

20-56140736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140736
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140736
    reference: chr 20
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.794A>G
  hgvsp: ENSP00000445767.1:p.Lys265Arg
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4387A>G
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1745A>G
  hgvsp: ENSP00000319814.4:p.Lys582Arg
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys582Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

20-56140743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140743
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140743
    reference: chr 20
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.801C>T
  hgvsp: ENST00000543666.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4394C>T
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1752C>T
  hgvsp: ENST00000319441.4:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
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genotype quality: GenotypeQuality
  all individuals: 600
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7813
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genotype quality: GenotypeQuality
  all individuals: 1409
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe584Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-56140752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140752
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140752
    reference: chr 20
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4403G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.810G>A
  hgvsp: ENST00000543666.1:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1761G>A
  hgvsp: ENST00000319441.4:c.1761G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys587Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

20-56140755-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140755
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140755
    reference: chr 20
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1764G>C
  hgvsp: ENSP00000319814.4:p.Glu588Asp
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.813G>C
  hgvsp: ENSP00000445767.1:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4406G>C
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu588Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

20-56140758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140758
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140758
    reference: chr 20
allele count: 2
allele frequency: 1.667889785842951e-5
allele num: 119912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.816G>A
  hgvsp: ENST00000543666.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1767G>A
  hgvsp: ENST00000319441.4:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4409G>A
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val589Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

20-56140768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140768
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140768
    reference: chr 20
allele count: 6
allele frequency: 5.008598093393659e-5
allele num: 119794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1777G>A
  hgvsp: ENSP00000319814.4:p.Glu593Lys
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.826G>A
  hgvsp: ENSP00000445767.1:p.Glu276Lys
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4419G>A
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu593Lys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

20-56140770-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140770
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140770
    reference: chr 20
allele count: 2
allele frequency: 1.670369318656355e-5
allele num: 119734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.828G>C
  hgvsp: ENSP00000445767.1:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4421G>C
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1779G>C
  hgvsp: ENSP00000319814.4:p.Glu593Asp
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7731
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu593Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

20-56140788-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140788
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140787
    reference: chr 20
allele count: 8
allele frequency: 6.706121011953661e-5
allele num: 119294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.847delG
  hgvsp: ENSP00000445767.1:p.Val283SerfsTer16
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1798delG
  hgvsp: ENSP00000319814.4:p.Val600SerfsTer16
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4440delG
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val600SerfsTer16
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AG
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

20-56140793-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140793
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140793
    reference: chr 20
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4444A>G
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.851A>G
  hgvsp: ENSP00000445767.1:p.Asn284Ser
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1802A>G
  hgvsp: ENSP00000319814.4:p.Asn601Ser
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn601Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

20-56140797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140797
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140797
    reference: chr 20
allele count: 3
allele frequency: 2.522534642809095e-5
allele num: 118928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4448C>T
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1806C>T
  hgvsp: ENST00000319441.4:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.855C>T
  hgvsp: ENST00000543666.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala602Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

20-56140798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140798
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140798
    reference: chr 20
allele count: 4
allele frequency: 3.365756790414325e-5
allele num: 118844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1807G>A
  hgvsp: ENSP00000319814.4:p.Asp603Asn
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4449G>A
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.856G>A
  hgvsp: ENSP00000445767.1:p.Asp286Asn
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp603Asn
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

20-56140807-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140807
    reference: chr 20
allele count: 8
allele frequency: 6.779546109387976e-5
allele num: 118002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.865T>G
  hgvsp: ENSP00000445767.1:p.Cys289Gly
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4458T>G
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1816T>G
  hgvsp: ENSP00000319814.4:p.Cys606Gly
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys606Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

20-56140814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56140814
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56140814
    reference: chr 20
allele count: 1
allele frequency: 8.521081154776918e-6
allele num: 117356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000445767
  ensembl transcript: ENST00000543666
  gene symbol: PCK1
  hgvsc: ENST00000543666.1:c.872T>C
  hgvsp: ENSP00000445767.1:p.Ile291Thr
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124253
  ensembl transcript: ENST00000467047
  gene symbol: PCK1
  hgvsc: ENST00000467047.1:n.4465T>C
  variant of: http://identifiers.org/hgnc/8724
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124253
  ensembl protein: ENSP00000319814
  ensembl transcript: ENST00000319441
  gene symbol: PCK1
  hgvsc: ENST00000319441.4:c.1823T>C
  hgvsp: ENSP00000319814.4:p.Ile608Thr
  variant of: http://identifiers.org/hgnc/8724
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile608Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T

GenotypeDepth
all individuals: 335
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33735
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 667
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 8.833922261484099e-4
allele num: 2264
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.555555555555556e-3
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.320306311064167e-4
allele num: 7574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.55e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: -1.255e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 3.44266e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeDepth
all individuals: 304
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 58
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 105
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6220
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 446
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 413
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 31811
bin: 7.5e0
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 2.426564495530013e-3
allele num: 7830
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.81657113079729e-4
allele num: 7676
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.241e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 3.48616e5

QD
type: SiteQuality
SIO_000300: 1.09e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
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variant carriers: 1

GenotypeDepth
all individuals: 66
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variant carriers: 0

GenotypeDepth
all individuals: 676
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 31811
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 6220
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variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.908285565398645e-4
allele num: 7676
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 3.48616e5

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeDepth
all individuals: 6121
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 32676
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.01e0

DP
type: SiteQuality
SIO_000300: 3.46662e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.486e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeDepth
all individuals: 751
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
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variant carriers: 0

GenotypeDepth
all individuals: 31796
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6031
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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South Asian
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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MQ
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DP
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QD
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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African
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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DP
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VQSLOD
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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East Asian
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South 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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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.064509261230573e-4
allele num: 9394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.777e1

QD
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SIO_000300: 1.092e1

ClippingRankSum
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SIO_000300: 6.18e-1

ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.247863e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.786416092036157e-5
allele num: 55978
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.345e0

FS
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.08e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.0e-3

BaseQRankSum
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SIO_000300: 8.24e-1

QD
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SIO_000300: 3.196e1

ClippingRankSum
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SIO_000300: 9.419999999999999e-1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.772314777190844e-5
allele num: 14766
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.242e1

DP
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SIO_000300: 1.295592e6

VQSLOD
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SIO_000300: 8.4e-1

BaseQRankSum
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SIO_000300: -3.073e0

ReadPosRankSum
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SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 40

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 293

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

African
type: Population
allele count: 294
allele frequency: 3.340909090909091e-2
allele num: 8800
num of homozygotes: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.925137903861308e-4
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.405182688051214e-5
allele num: 58734
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.340719e6

MQRankSum
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SIO_000300: 3.17e-1

VQSLOD
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SIO_000300: 6.19e0

ReadPosRankSum
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SIO_000300: 3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 249

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 12
allele frequency: 1.1196118678858e-3
allele num: 10718
num of homozygotes: 0

African
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allele count: 233
allele frequency: 2.511858559724019e-2
allele num: 9276
num of homozygotes: 5

European (Non-Finnish)
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allele count: 13
allele frequency: 2.120302713987474e-4
allele num: 61312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5072
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South Asian
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allele count: 1
allele frequency: 6.449116471043467e-5
allele num: 15506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.408872e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.86e-1

MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.11e-1

ClippingRankSum
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QD
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SIO_000300: 1.446e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

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

South Asian
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allele count: 5
allele frequency: 3.194888178913738e-4
allele num: 15650
num of homozygotes: 0

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

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

East Asian
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allele count: 0
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572920598968164e-5
allele num: 63576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.472743e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 9.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.023e0

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 940
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.482852e6

FS
type: SiteQuality
SIO_000300: 3.213e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552602161222208e-5
allele num: 64408
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.957e0

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 1.500183e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.417e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
all individuals: 1519
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 205
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 111
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GenotypeQuality
all individuals: 383
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 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: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 1.502203e6

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

GenotypeDepth
all individuals: 494
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 341
bin: 5.25e1
variant carriers: 17

GenotypeDepth
all individuals: 857
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variant carriers: 16

GenotypeDepth
all individuals: 128
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variant carriers: 8

GenotypeDepth
all individuals: 53
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GenotypeDepth
all individuals: 482
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variant carriers: 23

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 177

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1051
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.076326957377452e-4
allele num: 65036
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.050052502625131e-3
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.826372823572385e-4
allele num: 16426
num of homozygotes: 0

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

African
type: Population
allele count: 156
allele frequency: 1.551929964186232e-2
allele num: 10052
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

DP
type: SiteQuality
SIO_000300: 1.531381e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 478
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 55
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.610561258990595e-5
allele num: 65068
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.532786e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeDepth
all individuals: 307
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 1078
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.382233689642462e-4
allele num: 65112
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.536118e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeDepth
all individuals: 1576
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 798
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 428
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36918
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
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GenotypeQuality
all individuals: 37949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 3739
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.209799226376865e-5
allele num: 65148
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 3.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.537674e6

QD
type: SiteQuality
SIO_000300: 2.881e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.455e0

GenotypeDepth
all individuals: 674
bin: 1.75e1
variant carriers: 643

GenotypeDepth
all individuals: 344
bin: 7.5e0
variant carriers: 217

GenotypeDepth
all individuals: 4896
bin: 5.25e1
variant carriers: 4871

GenotypeDepth
all individuals: 4335
bin: 4.25e1
variant carriers: 4275

GenotypeDepth
all individuals: 1016
bin: 9.25e1
variant carriers: 1015

GenotypeDepth
all individuals: 3462
bin: 6.75e1
variant carriers: 3449

GenotypeDepth
all individuals: 4118
bin: 9.75e1
variant carriers: 4110

GenotypeDepth
all individuals: 4736
bin: 4.75e1
variant carriers: 4707

GenotypeDepth
all individuals: 2913
bin: 7.25e1
variant carriers: 2903

GenotypeQuality
all individuals: 45913
bin: 9.75e1
variant carriers: 45880

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 396

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 54

GenotypeQuality
all individuals: 467
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variant carriers: 239

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 74

GenotypeQuality
all individuals: 9245
bin: 6.25e1
variant carriers: 236

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 48

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 117

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 63

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 470

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 57

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 14

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 85

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 313

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 136

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 463

GenotypeQuality
all individuals: 232
bin: 5.25e1
variant carriers: 197

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 80

GenotypeQuality
all individuals: 1256
bin: 6.75e1
variant carriers: 295

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 179

African
type: Population
allele count: 7840
allele frequency: 7.66973195069458e-1
allele num: 10222
num of homozygotes: 3017

European (Non-Finnish)
type: Population
allele count: 40021
allele frequency: 6.113623170694449e-1
allele num: 65462
num of homozygotes: 12212

South Asian
type: Population
allele count: 9414
allele frequency: 5.708222168324036e-1
allele num: 16492
num of homozygotes: 2734

Latino
type: Population
allele count: 5903
allele frequency: 5.143778319972115e-1
allele num: 11476
num of homozygotes: 1527

East Asian
type: Population
allele count: 2387
allele frequency: 2.783998133893165e-1
allele num: 8574
num of homozygotes: 354

European (Finnish)
type: Population
allele count: 4520
allele frequency: 6.958128078817734e-1
allele num: 6496
num of homozygotes: 1577

Other
type: Population
allele count: 556
allele frequency: 6.332574031890661e-1
allele num: 878
num of homozygotes: 186

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 3.186098e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.43e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 2.165e1

GenotypeDepth
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 40
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variant carriers: 0

GenotypeDepth
all individuals: 9829
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 58
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variant carriers: 1

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 1

GenotypeQuality
all individuals: 2566
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
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variant carriers: 2

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 41539
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variant carriers: 0

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 2323
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variant carriers: 0

GenotypeQuality
all individuals: 206
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9423
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.611479e6

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

QD
type: SiteQuality
SIO_000300: 9.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

GenotypeDepth
all individuals: 511
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17393
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variant carriers: 0

GenotypeDepth
all individuals: 28938
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variant carriers: 0

GenotypeDepth
all individuals: 9736
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variant carriers: 0

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
all individuals: 384
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 532
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GenotypeQuality
all individuals: 9385
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 323
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 983
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GenotypeQuality
all individuals: 2525
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GenotypeQuality
all individuals: 2260
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GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 41950
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65416
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.608586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 347
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 565
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variant carriers: 0

GenotypeDepth
all individuals: 1563
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variant carriers: 0

GenotypeDepth
all individuals: 15
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GenotypeQuality
all individuals: 323
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variant carriers: 1

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 2500
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GenotypeQuality
all individuals: 9316
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variant carriers: 0

GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 42054
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GenotypeQuality
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GenotypeQuality
all individuals: 561
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 968
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 190
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variant carriers: 1

GenotypeQuality
all individuals: 782
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GenotypeQuality
all individuals: 250
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 2217
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GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.962708537782139e-4
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.607082e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 344
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variant carriers: 0

GenotypeDepth
all individuals: 215
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GenotypeDepth
all individuals: 12
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GenotypeDepth
all individuals: 461
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GenotypeDepth
all individuals: 13
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GenotypeDepth
all individuals: 11
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GenotypeDepth
all individuals: 15
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GenotypeQuality
all individuals: 9318
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GenotypeQuality
all individuals: 577
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 784
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variant carriers: 8

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 2209
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GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 192
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variant carriers: 1

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 2494
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GenotypeQuality
all individuals: 960
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GenotypeQuality
all individuals: 312
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GenotypeQuality
all individuals: 42050
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variant carriers: 0

GenotypeQuality
all individuals: 344
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 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: 1
allele frequency: 1.533272002453235e-4
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.223877856989872e-4
allele num: 65366
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.607415e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.589541963712022e-5
allele num: 65366
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: 12
allele frequency: 1.393728222996516e-3
allele num: 8610
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 1.148e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 1.607415e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeDepth
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.149e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.148e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 1.607415e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9636
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
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variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
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GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 85
bin: 5.25e1
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GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 42136
bin: 6.25e1
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GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

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

African
type: Population
allele count: 6
allele frequency: 5.89159465828751e-4
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.603595e6

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

QD
type: SiteQuality
SIO_000300: 1.056e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

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

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.896871378910776e-4
allele num: 10356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 169
allele frequency: 2.536318885820627e-3
allele num: 66632
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.670925e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 5.945e0

DP
type: SiteQuality
SIO_000300: 1.662121e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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MQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.582e0

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.661637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.98e0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
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 count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.47e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.66105e6

VQSLOD
type: SiteQuality
SIO_000300: -1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.123e0

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.661041e6

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
all individuals: 46982
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.012325266796934e-5
allele num: 66530
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.659946e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.764e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.457606734816596e-4
allele num: 66520
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.670399e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.07720270036351e-3
allele num: 11554
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: 3
allele frequency: 4.509921828021648e-5
allele num: 66520
num of homozygotes: 0

African
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allele count: 404
allele frequency: 3.909425198374299e-2
allele num: 10334
num of homozygotes: 7

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.670399e6

VQSLOD
type: SiteQuality
SIO_000300: 6.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 1.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.83e1

VQSLOD
type: SiteQuality
SIO_000300: -3.957e-1

DP
type: SiteQuality
SIO_000300: 1.651069e6

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

East Asian
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allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 5.14e0

DP
type: SiteQuality
SIO_000300: 1.650698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 0
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allele num: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.488e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 1.649968e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: -1.985e0

FS
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 2.186e1

DP
type: SiteQuality
SIO_000300: 1.646741e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
all individuals: 455
bin: 2.25e1
variant carriers: 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: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
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: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 4.994e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.6462e6

GenotypeQuality
all individuals: 513
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.205711632226608e-3
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
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: 898
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 1.64437e6

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

FS
type: SiteQuality
SIO_000300: 1.118e0

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.643108e6

QD
type: SiteQuality
SIO_000300: 1.61e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 6.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.641363e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 5.204e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.130631414158984e-3
allele num: 11498
num of homozygotes: 0

African
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allele count: 330
allele frequency: 3.235294117647059e-2
allele num: 10200
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Other
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allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

DP
type: SiteQuality
SIO_000300: 1.645732e6

VQSLOD
type: SiteQuality
SIO_000300: 6.43e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.025443983904638e-5
allele num: 66106
num of homozygotes: 0

African
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East Asian
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allele count: 0
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Other
type: Population
allele count: 0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.437e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.633275e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

Other
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allele count: 0
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

South Asian
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East Asian
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Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.631019e6

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.711e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.086e0

FS
type: SiteQuality
SIO_000300: 1.0296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.691e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 1.629022e6

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.981375074301565e-4
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
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: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 6.238e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

DP
type: SiteQuality
SIO_000300: 1.628457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 47328
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.328830926874709e-4
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 4.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.904e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.62746e6

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.615062761506276e-4
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.331002331002331e-4
allele num: 8580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.625535e6

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 1639
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744591765526867e-4
allele num: 11464
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.624223e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 4.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.221038493238499e-4
allele num: 65518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.617273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.054e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527930570834861e-5
allele num: 65448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
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: 8568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.613608e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.922e0

VQSLOD
type: SiteQuality
SIO_000300: -1.508e0

FS
type: SiteQuality
SIO_000300: 6.842e0

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.590665646518745e-5
allele num: 65350
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.60982e6

FS
type: SiteQuality
SIO_000300: 7.469e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.123511221334313e-5
allele num: 65322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.607732e6

QD
type: SiteQuality
SIO_000300: 1.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 7.755e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.235315847801995e-5
allele num: 64968
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

FS
type: SiteQuality
SIO_000300: 1.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.592429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0