X-134991068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991068
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991068
    reference: chr 0
allele count: 72
allele frequency: 8.234217749313815e-4
allele num: 87440
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1487G>A
  hgvsp: ENSP00000445959.1:p.Gly496Asp
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1487G>A
  hgvsp: ENSP00000323191.3:p.Gly496Asp
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-730G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1487G>A
  hgvsp: ENSP00000359743.3:p.Gly496Asp
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly496Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

X-134991078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991078
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991078
    reference: chr 0
allele count: 19435
allele frequency: 2.222870344953793e-1
allele num: 87432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1497A>G
  hgvsp: ENST00000370709.3:c.1497A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1497A>G
  hgvsp: ENST00000324447.3:c.1497A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1497A>G
  hgvsp: ENST00000535938.1:c.1497A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-720A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 6.25e1
  variant carriers: 872
genotype depth: GenotypeDepth
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  variant carriers: 626
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 41
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 675
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 735
genotype depth: GenotypeDepth
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  variant carriers: 672
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 963
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 174
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2042
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  variant carriers: 144
hgvs: p.Gln499Gln
num of homozygotes: 1458
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

X-134991109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991109
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991109
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1528C>G
  hgvsp: ENSP00000323191.3:p.Gln510Glu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1528C>G
  hgvsp: ENSP00000445959.1:p.Gln510Glu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1528C>G
  hgvsp: ENSP00000359743.3:p.Gln510Glu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-689C>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gln510Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

X-134991115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991115
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991115
    reference: chr 0
allele count: 1
allele frequency: 1.143092293271759e-5
allele num: 87482
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1534G>A
  hgvsp: ENSP00000445959.1:p.Gly512Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1534G>A
  hgvsp: ENSP00000323191.3:p.Gly512Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1534G>A
  hgvsp: ENSP00000359743.3:p.Gly512Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-683G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly512Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

X-134991124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991124
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991124
    reference: chr 0
allele count: 1
allele frequency: 1.145239240477336e-5
allele num: 87318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-674G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1543G>A
  hgvsp: ENSP00000445959.1:p.Ala515Thr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1543G>A
  hgvsp: ENSP00000323191.3:p.Ala515Thr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1543G>A
  hgvsp: ENSP00000359743.3:p.Ala515Thr
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ala515Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

X-134991132-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991132
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991132
    reference: chr 0
allele count: 1
allele frequency: 1.147697145677199e-5
allele num: 87131
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-666T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1551T>C
  hgvsp: ENST00000370709.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1551T>C
  hgvsp: ENST00000324447.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1551T>C
  hgvsp: ENST00000535938.1:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
hgvs: p.Gly517Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

X-134991133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991133
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991133
    reference: chr 0
allele count: 1
allele frequency: 1.147736663299972e-5
allele num: 87128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-665G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1552G>A
  hgvsp: ENSP00000323191.3:p.Gly518Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1552G>A
  hgvsp: ENSP00000359743.3:p.Gly518Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1552G>A
  hgvsp: ENSP00000445959.1:p.Gly518Ser
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Gly518Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-134991152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991152
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991152
    reference: chr 0
allele count: 14
allele frequency: 1.619320810585732e-4
allele num: 86456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1571C>T
  hgvsp: ENSP00000323191.3:p.Thr524Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1571C>T
  hgvsp: ENSP00000359743.3:p.Thr524Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-646C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1571C>T
  hgvsp: ENSP00000445959.1:p.Thr524Ile
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Thr524Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

X-134991153-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991153
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991153
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86415
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1572C>A
  hgvsp: ENST00000324447.3:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1572C>A
  hgvsp: ENST00000370709.3:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-645C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1572C>A
  hgvsp: ENST00000535938.1:c.1572C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2458
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28000
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr524Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-134991154-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991154
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991154
    reference: chr 0
allele count: 2
allele frequency: 2.314734442091131e-5
allele num: 86403
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1573A>C
  hgvsp: ENSP00000445959.1:p.Lys525Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1573A>C
  hgvsp: ENSP00000359743.3:p.Lys525Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1573A>C
  hgvsp: ENSP00000323191.3:p.Lys525Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-644A>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2236
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  variant carriers: 0
hgvs: p.Lys525Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS

X-134991183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991183
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991183
    reference: chr 0
allele count: 1
allele frequency: 1.169494895154783e-5
allele num: 85507
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-615G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+20G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+20G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+20G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

X-134991187-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991187
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991187
    reference: chr 0
allele count: 2
allele frequency: 2.343127606729462e-5
allele num: 85356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+24T>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+24T>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+24T>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-611T>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

X-134991188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991188
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991188
    reference: chr 0
allele count: 1
allele frequency: 1.172662882874431e-5
allele num: 85276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+25G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+25G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+25G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-610G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27993
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

X-134991191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991191
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991191
    reference: chr 0
allele count: 1
allele frequency: 1.173158141717504e-5
allele num: 85240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+28A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+28A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+28A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-607A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10393
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

X-134991194-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991194
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991194
    reference: chr 0
allele count: 25
allele frequency: 2.93975846944415e-4
allele num: 85041
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+31C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+31C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+31C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-604C>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 567
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 170
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-134991204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991204
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991204
    reference: chr 0
allele count: 9
allele frequency: 1.064748541886025e-4
allele num: 84527
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1582+41A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-594A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1582+41A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1582+41A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1321
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

X-134991750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991750
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991750
    reference: chr 0
allele count: 2
allele frequency: 2.457908320019663e-5
allele num: 81370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-48G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-48G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-48G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-48G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 229
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genotype quality: GenotypeQuality
  all individuals: 36861
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-134991751-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991751
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991751
    reference: chr 0
allele count: 24
allele frequency: 2.949127549766527e-4
allele num: 81380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-47A>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-47A>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-47A>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-47A>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36872
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-134991757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991757
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991757
    reference: chr 0
allele count: 6
allele frequency: 7.370464093555758e-5
allele num: 81406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-41T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-41T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-41T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-41T>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

X-134991765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991765
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991765
    reference: chr 0
allele count: 3
allele frequency: 3.683512597613084e-5
allele num: 81444
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-33C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-33C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-33C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-33C>T
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3991
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4480
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

X-134991766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991766
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991766
    reference: chr 0
allele count: 1
allele frequency: 1.227129376250138e-5
allele num: 81491
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-32G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-32G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-32G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-32G>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36899
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

X-134991766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991766
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991766
    reference: chr 0
allele count: 4
allele frequency: 4.908517505000552e-5
allele num: 81491
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-32G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-32G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-32G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-32G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36899
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

X-134991771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991771
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991771
    reference: chr 0
allele count: 1
allele frequency: 1.225114854517611e-5
allele num: 81625
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-27A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-27A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-27A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-27A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-134991772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991772
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991772
    reference: chr 0
allele count: 1
allele frequency: 1.225114854517611e-5
allele num: 81625
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-26A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-26A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-26A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-26A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

X-134991773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991773
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991773
    reference: chr 0
allele count: 1
allele frequency: 1.224829748664936e-5
allele num: 81644
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-25G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-25G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-25G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-25G>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

X-134991781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991781
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991781
    reference: chr 0
allele count: 1
allele frequency: 1.221403881621536e-5
allele num: 81873
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-17C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-17C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-17C>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-17C>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 222
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

X-134991784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991784
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991784
    reference: chr 0
allele count: 1
allele frequency: 1.220375387469186e-5
allele num: 81942
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-14T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-14T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-14T>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-14T>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

X-134991786-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991786
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991786
    reference: chr 0
allele count: 1
allele frequency: 1.219378360911607e-5
allele num: 82009
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-12T>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-12T>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-12T>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-12T>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1611
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

X-134991790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991790
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991790
    reference: chr 0
allele count: 1
allele frequency: 1.218368117743095e-5
allele num: 82077
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-8G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-8G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-8G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-8G>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
hgvs: c.1583-8G>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-134991795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991795
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991795
    reference: chr 0
allele count: 2
allele frequency: 2.431108463904117e-5
allele num: 82267
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-3C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-3C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-3C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-3C>T
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2700
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hgvs: c.1583-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

X-134991797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991797
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991797
    reference: chr 0
allele count: 3
allele frequency: 3.639451655950503e-5
allele num: 82430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1583-1G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1583-1G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1583-1G>A
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.455-1G>A
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.1583-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

X-134991806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991806
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991806
    reference: chr 0
allele count: 10
allele frequency: 1.203702589164269e-4
allele num: 83077
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.463G>A
  hgvsp: ENSP00000438276.1:p.Val155Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1591G>A
  hgvsp: ENSP00000359743.3:p.Val531Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1591G>A
  hgvsp: ENSP00000445959.1:p.Val531Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1591G>A
  hgvsp: ENSP00000323191.3:p.Val531Ile
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Val531Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

X-134991812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991812
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991812
    reference: chr 0
allele count: 1
allele frequency: 1.197633476250928e-5
allele num: 83498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.469C>T
  hgvsp: ENSP00000438276.1:p.Gln157Ter
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1597C>T
  hgvsp: ENSP00000359743.3:p.Gln533Ter
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1597C>T
  hgvsp: ENSP00000445959.1:p.Gln533Ter
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1597C>T
  hgvsp: ENSP00000323191.3:p.Gln533Ter
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln533Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

X-134991820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991820
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991820
    reference: chr 0
allele count: 4
allele frequency: 4.765649200562346e-5
allele num: 83934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1605C>T
  hgvsp: ENST00000370709.3:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1605C>T
  hgvsp: ENST00000535938.1:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1605C>T
  hgvsp: ENST00000324447.3:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.477C>T
  hgvsp: ENST00000537770.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2427
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hgvs: p.Val535Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
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X-134991831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991831
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991831
    reference: chr 0
allele count: 2
allele frequency: 2.363004796899738e-5
allele num: 84638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.488G>A
  hgvsp: ENSP00000438276.1:p.Arg163Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1616G>A
  hgvsp: ENSP00000359743.3:p.Arg539Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1616G>A
  hgvsp: ENSP00000323191.3:p.Arg539Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1616G>A
  hgvsp: ENSP00000445959.1:p.Arg539Lys
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5577
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg539Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-134991844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991844
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991844
    reference: chr 0
allele count: 1
allele frequency: 1.173791581566777e-5
allele num: 85194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.501C>T
  hgvsp: ENST00000537770.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1629C>T
  hgvsp: ENST00000324447.3:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1629C>T
  hgvsp: ENST00000370709.3:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1629C>T
  hgvsp: ENST00000535938.1:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Asn543Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

X-134991861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991861
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991861
    reference: chr 0
allele count: 1
allele frequency: 1.168306189686193e-5
allele num: 85594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1646A>G
  hgvsp: ENSP00000445959.1:p.Tyr549Cys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1646A>G
  hgvsp: ENSP00000359743.3:p.Tyr549Cys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.518A>G
  hgvsp: ENSP00000438276.1:p.Tyr173Cys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1646A>G
  hgvsp: ENSP00000323191.3:p.Tyr549Cys
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6754
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
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hgvs: p.Tyr549Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-134991865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991865
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991865
    reference: chr 0
allele count: 1
allele frequency: 1.168169711695715e-5
allele num: 85604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1650C>T
  hgvsp: ENST00000535938.1:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.522C>T
  hgvsp: ENST00000537770.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1650C>T
  hgvsp: ENST00000370709.3:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1650C>T
  hgvsp: ENST00000324447.3:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2686
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  variant carriers: 0
hgvs: p.Asp550Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
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site quality: ReadPosRankSum

X-134991875-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991875
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991875
    reference: chr 0
allele count: 1
allele frequency: 1.169371813461808e-5
allele num: 85516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.532G>C
  hgvsp: ENSP00000438276.1:p.Val178Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1660G>C
  hgvsp: ENSP00000323191.3:p.Val554Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1660G>C
  hgvsp: ENSP00000359743.3:p.Val554Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1660G>C
  hgvsp: ENSP00000445959.1:p.Val554Leu
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val554Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-134991881-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991881
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991881
    reference: chr 0
allele count: 2
allele frequency: 2.339947585174092e-5
allele num: 85472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1666C>G
  hgvsp: ENSP00000359743.3:p.Pro556Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1666C>G
  hgvsp: ENSP00000323191.3:p.Pro556Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1666C>G
  hgvsp: ENSP00000445959.1:p.Pro556Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.538C>G
  hgvsp: ENSP00000438276.1:p.Pro180Ala
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1640
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  variant carriers: 0
hgvs: p.Pro556Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-134991885-GACTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991885
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991881
    reference: chr 0
allele count: 1
allele frequency: 1.170740844806594e-5
allele num: 85416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1676_1679delCTTA
  hgvsp: ENSP00000323191.3:p.Thr559IlefsTer2
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1676_1679delCTTA
  hgvsp: ENSP00000359743.3:p.Thr559IlefsTer2
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1676_1679delCTTA
  hgvsp: ENSP00000445959.1:p.Thr559IlefsTer2
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.548_551delCTTA
  hgvsp: ENSP00000438276.1:p.Thr183IlefsTer2
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36953
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr559IlefsTer2
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: GACTT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

X-134991888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991888
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991888
    reference: chr 0
allele count: 4
allele frequency: 4.687353520202493e-5
allele num: 85336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1673T>C
  hgvsp: ENSP00000445959.1:p.Leu558Pro
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1673T>C
  hgvsp: ENSP00000323191.3:p.Leu558Pro
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1673T>C
  hgvsp: ENSP00000359743.3:p.Leu558Pro
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.545T>C
  hgvsp: ENSP00000438276.1:p.Leu182Pro
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1643
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  variant carriers: 0
hgvs: p.Leu558Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

X-134991900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991900
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991900
    reference: chr 0
allele count: 1
allele frequency: 1.177606632280553e-5
allele num: 84918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1685C>T
  hgvsp: ENSP00000445959.1:p.Thr562Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1685C>T
  hgvsp: ENSP00000359743.3:p.Thr562Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1685C>T
  hgvsp: ENSP00000323191.3:p.Thr562Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.557C>T
  hgvsp: ENSP00000438276.1:p.Thr186Ile
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr562Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

X-134991915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991915
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991915
    reference: chr 0
allele count: 6
allele frequency: 7.129446992561611e-5
allele num: 84158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1700C>T
  hgvsp: ENSP00000359743.3:p.Pro567Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1700C>T
  hgvsp: ENSP00000323191.3:p.Pro567Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.572C>T
  hgvsp: ENSP00000438276.1:p.Pro191Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1700C>T
  hgvsp: ENSP00000445959.1:p.Pro567Leu
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro567Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-134991916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991916
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991916
    reference: chr 0
allele count: 4
allele frequency: 4.757600266425615e-5
allele num: 84076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1701G>A
  hgvsp: ENST00000370709.3:c.1701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.573G>A
  hgvsp: ENST00000537770.1:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1701G>A
  hgvsp: ENST00000535938.1:c.1701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1701G>A
  hgvsp: ENST00000324447.3:c.1701G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro567Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-134991920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991920
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991920
    reference: chr 0
allele count: 1
allele frequency: 1.192805000238561e-5
allele num: 83836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.577A>G
  hgvsp: ENSP00000438276.1:p.Met193Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1705A>G
  hgvsp: ENSP00000359743.3:p.Met569Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1705A>G
  hgvsp: ENSP00000445959.1:p.Met569Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1705A>G
  hgvsp: ENSP00000323191.3:p.Met569Val
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3862
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met569Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

X-134991924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991924
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991924
    reference: chr 0
allele count: 1
allele frequency: 1.196129325502673e-5
allele num: 83603
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1709G>A
  hgvsp: ENSP00000359743.3:p.Ser570Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1709G>A
  hgvsp: ENSP00000445959.1:p.Ser570Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.581G>A
  hgvsp: ENSP00000438276.1:p.Ser194Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1709G>A
  hgvsp: ENSP00000323191.3:p.Ser570Asn
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
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genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 149
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genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser570Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

X-134991928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991928
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991928
    reference: chr 0
allele count: 2
allele frequency: 2.401046856429403e-5
allele num: 83297
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.585C>T
  hgvsp: ENST00000537770.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1713C>T
  hgvsp: ENST00000370709.3:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1713C>T
  hgvsp: ENST00000535938.1:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1713C>T
  hgvsp: ENST00000324447.3:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36956
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr571Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

X-134991936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991936
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991936
    reference: chr 0
allele count: 1
allele frequency: 1.205661787755299e-5
allele num: 82942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1721A>G
  hgvsp: ENSP00000359743.3:p.Gln574Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1721A>G
  hgvsp: ENSP00000445959.1:p.Gln574Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1721A>G
  hgvsp: ENSP00000323191.3:p.Gln574Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.593A>G
  hgvsp: ENSP00000438276.1:p.Gln198Arg
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
hgvs: p.Gln574Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-134991956-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991956
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991956
    reference: chr 0
allele count: 1
allele frequency: 1.215761127253717e-5
allele num: 82253
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.595+18G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1723+18G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1723+18G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1723+18G>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

X-134991964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991964
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991964
    reference: chr 0
allele count: 1
allele frequency: 1.220271144248252e-5
allele num: 81949
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.595+26G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1723+26G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1723+26G>C
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1723+26G>C
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-134991980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991980
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991980
    reference: chr 0
allele count: 1
allele frequency: 1.224754742862742e-5
allele num: 81649
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1723+42A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1723+42A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.595+42A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1723+42A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

X-134991986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134991986
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134991986
    reference: chr 0
allele count: 6
allele frequency: 7.358983479082089e-5
allele num: 81533
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1723+48A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1723+48A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1723+48A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.595+48A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-134992141-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992141
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992141
    reference: chr 0
allele count: 1
allele frequency: 1.207000603500302e-5
allele num: 82850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1724-48G>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.596-48G>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1724-48G>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1724-48G>T
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

X-134992144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992144
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992144
    reference: chr 0
allele count: 1
allele frequency: 1.206418144528894e-5
allele num: 82890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1724-45A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1724-45A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.596-45A>G
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1724-45A>G
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-134992154-TAACTCAAAACTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992154
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992141
    reference: chr 0
allele count: 1
allele frequency: 1.204456489009335e-5
allele num: 83025
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1011
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TAACTCAAAACTTA
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

X-134992164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992164
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992164
    reference: chr 0
allele count: 1
allele frequency: 1.199731260197716e-5
allele num: 83352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1724-25C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1724-25C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.596-25C>T
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1724-25C>T
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

X-134992196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992196
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992196
    reference: chr 0
allele count: 3
allele frequency: 3.511852502194908e-5
allele num: 85425
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1731C>T
  hgvsp: ENST00000370709.3:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1731C>T
  hgvsp: ENST00000324447.3:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.603C>T
  hgvsp: ENST00000537770.1:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1731C>T
  hgvsp: ENST00000535938.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr577Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
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site quality: DP

X-134992197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992197
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992197
    reference: chr 0
allele count: 9
allele frequency: 1.051905702497692e-4
allele num: 85559
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1732G>A
  hgvsp: ENSP00000359743.3:p.Val578Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1732G>A
  hgvsp: ENSP00000323191.3:p.Val578Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1732G>A
  hgvsp: ENSP00000445959.1:p.Val578Ile
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.604G>A
  hgvsp: ENSP00000438276.1:p.Val202Ile
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Val578Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

X-134992198-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992198
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992198
    reference: chr 0
allele count: 1
allele frequency: 1.167665020258988e-5
allele num: 85641
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1733T>A
  hgvsp: ENSP00000323191.3:p.Val578Asp
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.605T>A
  hgvsp: ENSP00000438276.1:p.Val202Asp
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1733T>A
  hgvsp: ENSP00000359743.3:p.Val578Asp
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1733T>A
  hgvsp: ENSP00000445959.1:p.Val578Asp
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Val578Asp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

X-134992207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992207
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992207
    reference: chr 0
allele count: 1
allele frequency: 1.159084323384526e-5
allele num: 86275
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1742A>G
  hgvsp: ENSP00000445959.1:p.Asn581Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1742A>G
  hgvsp: ENSP00000323191.3:p.Asn581Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1742A>G
  hgvsp: ENSP00000359743.3:p.Asn581Ser
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.614A>G
  hgvsp: ENSP00000438276.1:p.Asn205Ser
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2293
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1950
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2750
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genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn581Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

X-134992212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992212
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992212
    reference: chr 0
allele count: 1
allele frequency: 1.155842204422252e-5
allele num: 86517
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1747C>T
  hgvsp: ENSP00000359743.3:p.His583Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1747C>T
  hgvsp: ENSP00000323191.3:p.His583Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.619C>T
  hgvsp: ENSP00000438276.1:p.His207Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1747C>T
  hgvsp: ENSP00000445959.1:p.His583Tyr
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1950
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2561
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genotype quality: GenotypeQuality
  all individuals: 69
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  variant carriers: 0
hgvs: p.His583Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-134992213-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992213
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992213
    reference: chr 0
allele count: 1
allele frequency: 1.154974475064101e-5
allele num: 86582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.620A>G
  hgvsp: ENSP00000438276.1:p.His207Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1748A>G
  hgvsp: ENSP00000359743.3:p.His583Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1748A>G
  hgvsp: ENSP00000445959.1:p.His583Arg
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1748A>G
  hgvsp: ENSP00000323191.3:p.His583Arg
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1134
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  variant carriers: 0
hgvs: p.His583Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

X-134992214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992214
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992214
    reference: chr 0
allele count: 1
allele frequency: 1.154108047595416e-5
allele num: 86647
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1749T>C
  hgvsp: ENST00000535938.1:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1749T>C
  hgvsp: ENST00000324447.3:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.621T>C
  hgvsp: ENST00000537770.1:c.621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1749T>C
  hgvsp: ENST00000370709.3:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His583His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

X-134992214-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992214
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992214
    reference: chr 0
allele count: 1
allele frequency: 1.154108047595416e-5
allele num: 86647
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1749T>G
  hgvsp: ENSP00000359743.3:p.His583Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1749T>G
  hgvsp: ENSP00000323191.3:p.His583Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.621T>G
  hgvsp: ENSP00000438276.1:p.His207Gln
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1749T>G
  hgvsp: ENSP00000445959.1:p.His583Gln
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1950
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His583Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

X-134992232-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992232
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992232
    reference: chr 0
allele count: 1
allele frequency: 1.146039859266305e-5
allele num: 87257
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1767T>G
  hgvsp: ENSP00000445959.1:p.Asn589Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1767T>G
  hgvsp: ENSP00000323191.3:p.Asn589Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1767T>G
  hgvsp: ENSP00000359743.3:p.Asn589Lys
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.639T>G
  hgvsp: ENSP00000438276.1:p.Asn213Lys
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2765
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  variant carriers: 0
hgvs: p.Asn589Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

X-134992234-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992234
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992234
    reference: chr 0
allele count: 3
allele frequency: 3.436544211141276e-5
allele num: 87297
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1769G>T
  hgvsp: ENSP00000445959.1:p.Gly590Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1769G>T
  hgvsp: ENSP00000323191.3:p.Gly590Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1769G>T
  hgvsp: ENSP00000359743.3:p.Gly590Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.641G>T
  hgvsp: ENSP00000438276.1:p.Gly214Val
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6600
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
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hgvs: p.Gly590Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-134992243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992243
    reference: chr 0
allele count: 1
allele frequency: 1.143680592884019e-5
allele num: 87437
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.650C>T
  hgvsp: ENSP00000438276.1:p.Ala217Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1778C>T
  hgvsp: ENSP00000359743.3:p.Ala593Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1778C>T
  hgvsp: ENSP00000445959.1:p.Ala593Val
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1778C>T
  hgvsp: ENSP00000323191.3:p.Ala593Val
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala593Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

X-134992247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992247
    reference: chr 0
allele count: 1
allele frequency: 1.14322297420889e-5
allele num: 87472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.654C>T
  hgvsp: ENST00000537770.1:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1782C>T
  hgvsp: ENST00000370709.3:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1782C>T
  hgvsp: ENST00000324447.3:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1782C>T
  hgvsp: ENST00000535938.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9728
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser594Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-134992248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992248
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992248
    reference: chr 0
allele count: 7
allele frequency: 8.00137166371378e-5
allele num: 87485
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1783G>A
  hgvsp: ENSP00000323191.3:p.Asp595Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1783G>A
  hgvsp: ENSP00000445959.1:p.Asp595Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.655G>A
  hgvsp: ENSP00000438276.1:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1783G>A
  hgvsp: ENSP00000359743.3:p.Asp595Asn
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35714
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  variant carriers: 7
hgvs: p.Asp595Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

X-134992258-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992258
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992258
    reference: chr 0
allele count: 3
allele frequency: 3.428414701042238e-5
allele num: 87504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1793T>A
  hgvsp: ENSP00000445959.1:p.Phe598Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.665T>A
  hgvsp: ENSP00000438276.1:p.Phe222Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1793T>A
  hgvsp: ENSP00000359743.3:p.Phe598Tyr
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1793T>A
  hgvsp: ENSP00000323191.3:p.Phe598Tyr
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Phe598Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-134992261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992261
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992261
    reference: chr 0
allele count: 1
allele frequency: 1.142778780883597e-5
allele num: 87506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1796C>T
  hgvsp: ENSP00000323191.3:p.Ser599Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1796C>T
  hgvsp: ENSP00000445959.1:p.Ser599Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1796C>T
  hgvsp: ENSP00000359743.3:p.Ser599Leu
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.668C>T
  hgvsp: ENSP00000438276.1:p.Ser223Leu
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Ser599Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-134992262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992262
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992262
    reference: chr 0
allele count: 1
allele frequency: 1.142817960527068e-5
allele num: 87503
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1797G>A
  hgvsp: ENST00000370709.3:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.669G>A
  hgvsp: ENST00000537770.1:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1797G>A
  hgvsp: ENST00000535938.1:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1797G>A
  hgvsp: ENST00000324447.3:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser599Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

X-134992265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992265
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992265
    reference: chr 0
allele count: 6
allele frequency: 6.857299595419324e-5
allele num: 87498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.672T>C
  hgvsp: ENST00000537770.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1800T>C
  hgvsp: ENST00000370709.3:c.1800T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1800T>C
  hgvsp: ENST00000324447.3:c.1800T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1800T>C
  hgvsp: ENST00000535938.1:c.1800T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr600Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-134992269-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24134992269
    reference: chr 0
allele count: 1
allele frequency: 1.143026964006081e-5
allele num: 87487
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000323191
  ensembl transcript: ENST00000324447
  gene symbol: SAGE1
  hgvsc: ENST00000324447.3:c.1804C>G
  hgvsp: ENSP00000323191.3:p.Pro602Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000445959
  ensembl transcript: ENST00000535938
  gene symbol: SAGE1
  hgvsc: ENST00000535938.1:c.1804C>G
  hgvsp: ENSP00000445959.1:p.Pro602Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000359743
  ensembl transcript: ENST00000370709
  gene symbol: SAGE1
  hgvsc: ENST00000370709.3:c.1804C>G
  hgvsp: ENSP00000359743.3:p.Pro602Ala
  variant of: http://identifiers.org/hgnc/30369
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181433
  ensembl protein: ENSP00000438276
  ensembl transcript: ENST00000537770
  gene symbol: SAGE1
  hgvsc: ENST00000537770.1:c.676C>G
  hgvsp: ENSP00000438276.1:p.Pro226Ala
  variant of: http://identifiers.org/hgnc/30369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro602Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

X-134992277-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24134992277
allele count: 1
allele frequency: 1.14385065885798e-5
allele num: 87424
alternate allele: A
canonical: true
consequence: frameshift
filter: PASS
hgvs: p.Phe605LeufsTer12
num of homozygotes: 0
reference allele: AT

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

Latino
type: Population
allele count: 72
allele frequency: 7.734450531743474e-3
allele num: 9309
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8509
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9929
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.143e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.841e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 3.128278e6

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

QD
type: SiteQuality
SIO_000300: 2.125e1

GenotypeQuality
all individuals: 34569
bin: 9.75e1
variant carriers: 16816

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 62

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 105

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 35

Other
type: Population
allele count: 154
allele frequency: 2.432859399684044e-1
allele num: 633
num of homozygotes: 15

African
type: Population
allele count: 1185
allele frequency: 1.39346190028222e-1
allele num: 8504
num of homozygotes: 78

Latino
type: Population
allele count: 2090
allele frequency: 2.251912509427863e-1
allele num: 9281
num of homozygotes: 171

South Asian
type: Population
allele count: 1501
allele frequency: 1.491751142913934e-1
allele num: 10062
num of homozygotes: 37

East Asian
type: Population
allele count: 823
allele frequency: 1.245271599334241e-1
allele num: 6609
num of homozygotes: 48

European (Finnish)
type: Population
allele count: 1436
allele frequency: 3.176991150442478e-1
allele num: 4520
num of homozygotes: 127

European (Non-Finnish)
type: Population
allele count: 12246
allele frequency: 2.560692553792108e-1
allele num: 47823
num of homozygotes: 982

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 3.690939e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.556e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.986e1

GenotypeQuality
all individuals: 5439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2632
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47907
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.1318e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

DP
type: SiteQuality
SIO_000300: 2.885714e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
all individuals: 28010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5419
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.003109639883639e-4
allele num: 9969
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.237e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 2.884005e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.089689472144439e-5
allele num: 47854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9851
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.878693e6

FS
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 14102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2268
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.210433244916003e-4
allele num: 4524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 2.87291e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.507159005275056e-4
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 5.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.132e0

DP
type: SiteQuality
SIO_000300: 2.872896e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.923e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2615
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12771
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2057
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07469102632993e-4
allele num: 9305
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.410131250677948e-3
allele num: 9219
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.955e0

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.938e-1

DP
type: SiteQuality
SIO_000300: 2.852758e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 4.602e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.789e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9303
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 2.336e0

QD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

DP
type: SiteQuality
SIO_000300: 2.851559e6

GenotypeQuality
all individuals: 28000
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.149613069647464e-4
allele num: 9304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9185
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

QD
type: SiteQuality
SIO_000300: 1.056e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.828e1

DP
type: SiteQuality
SIO_000300: 2.85017e6

FS
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9291
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8487
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

DP
type: SiteQuality
SIO_000300: 2.819498e6

VQSLOD
type: SiteQuality
SIO_000300: -4.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

FS
type: SiteQuality
SIO_000300: 1.4491e1

QD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 3.796e1

GenotypeQuality
all individuals: 4931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8437
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.642036124794745e-3
allele num: 609
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.178550383028874e-4
allele num: 8485
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.459e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 3.975e1

VQSLOD
type: SiteQuality
SIO_000300: -1.95e0

DP
type: SiteQuality
SIO_000300: 2.812157e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
all individuals: 2859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.111085308957335e-5
allele num: 47369
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.2787e1

DP
type: SiteQuality
SIO_000300: 2.809534e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 3.767e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 7.73e0

VQSLOD
type: SiteQuality
SIO_000300: -3.76e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.111486486486487e-5
allele num: 47360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.806496e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.442e0

MQ
type: SiteQuality
SIO_000300: 3.747e1

VQSLOD
type: SiteQuality
SIO_000300: -1.943e0

QD
type: SiteQuality
SIO_000300: 1.83e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 7.25e1
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GenotypeQuality
all individuals: 1336
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47300
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 3.777005589968273e-3
allele num: 6619
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.59e-2

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 2.548e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.975e0

DP
type: SiteQuality
SIO_000300: 2.800794e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47173
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6617
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
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: 9
allele frequency: 1.062448353205053e-3
allele num: 8471
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.762e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

FS
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 2.766019e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6563
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8381
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.334257975034674e-5
allele num: 46144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5953
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 2.922509e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.333e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

FS
type: SiteQuality
SIO_000300: 2.278e0

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

GenotypeQuality
all individuals: 452
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 23
allele frequency: 2.743975184920067e-3
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46149
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.08084738434933e-4
allele num: 9252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5957
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

FS
type: SiteQuality
SIO_000300: 7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.923254e6

QD
type: SiteQuality
SIO_000300: 1.765e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

GenotypeQuality
all individuals: 4162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36885
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6569
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5971
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.083306250677066e-4
allele num: 46155
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9249
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.217e1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

DP
type: SiteQuality
SIO_000300: 2.927675e6

VQSLOD
type: SiteQuality
SIO_000300: -5.762e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1568
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.498992656138298e-5
allele num: 46161
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8383
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6571
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 3.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.934395e6

GenotypeQuality
all individuals: 4508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.660577881102624e-4
allele num: 6022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.935764e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 6.856e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
all individuals: 4508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.66213348347698e-5
allele num: 46178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

FS
type: SiteQuality
SIO_000300: 6.856e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 2.935764e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

GenotypeQuality
all individuals: 2677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4658
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9261
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6581
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8391
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.16323793454042e-5
allele num: 46227
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.642e1

DP
type: SiteQuality
SIO_000300: 2.939951e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 7.163e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.418e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.655e0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36913
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9261
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8391
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.641766540797899e-4
allele num: 6091
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46218
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.940596e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.252e1

MQ
type: SiteQuality
SIO_000300: 4.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9261
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8393
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46229
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.640150893882237e-4
allele num: 6097
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

DP
type: SiteQuality
SIO_000300: 2.941139e6

QD
type: SiteQuality
SIO_000300: 3.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 4.007e1

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36930
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.517680983457277e-4
allele num: 6589
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46317
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8393
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6221
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.102e0

FS
type: SiteQuality
SIO_000300: 5.207e0

DP
type: SiteQuality
SIO_000300: 2.947047e6

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 2419
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6589
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.157869750981831e-5
allele num: 46342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6263
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8393
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.169e0

DP
type: SiteQuality
SIO_000300: 2.948855e6

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6591
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8397
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.156892349502836e-5
allele num: 46363
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6301
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 2.950127e6

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 1.026e0

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.107e0

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

GenotypeQuality
all individuals: 4921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36931
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2424
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.155869354317128e-5
allele num: 46385
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6335
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6597
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.952497e6

VQSLOD
type: SiteQuality
SIO_000300: -2.386e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.11e1

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.377838544762811e-4
allele num: 8411
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6595
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46462
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9269
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 2.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.667e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 2.956174e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.298764105319721e-5
allele num: 46525
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 575
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.531862745098039e-4
allele num: 6528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -2.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 2.958248e6

QD
type: SiteQuality
SIO_000300: 2.811e1

GenotypeQuality
all individuals: 2429
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 36940
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.028467595396729e-4
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.069175665561852e-4
allele num: 46765
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.905709719599012e-4
allele num: 6883
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9277
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

DP
type: SiteQuality
SIO_000300: 2.967906e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.577e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6613
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46929
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 3.149e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

DP
type: SiteQuality
SIO_000300: 2.973624e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8461
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.436259853220984e-4
allele num: 7358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47089
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e0

QD
type: SiteQuality
SIO_000300: 3.019e1

DP
type: SiteQuality
SIO_000300: 2.979232e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7831
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.229402808323465e-5
allele num: 47288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8475
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.293e0

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 2.989257e6

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

QD
type: SiteQuality
SIO_000300: 2.271e1

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2427
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variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.076194575979337e-4
allele num: 9292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8231
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.997952e6

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.811e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.658e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.173571177091891e-4
allele num: 8521
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47516
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 3.004199e6

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.104377104377104e-5
allele num: 47520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9295
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.004344e6

MQRankSum
type: SiteQuality
SIO_000300: -1.451e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.43e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47490
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.639344262295082e-3
allele num: 610
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 3.001497e6

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.212477357934201e-5
allele num: 47478
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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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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East Asian
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allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8485
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9297
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.106859935951458e-5
allele num: 47464
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.431703204047218e-5
allele num: 47440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8349
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

QD
type: SiteQuality
SIO_000300: 1.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.31e-2

DP
type: SiteQuality
SIO_000300: 2.997297e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8473
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.113718030014796e-5
allele num: 47310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 2.988332e6

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.499787505312367e-5
allele num: 47060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.181893393215932e-4
allele num: 8461
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07654214662504e-4
allele num: 9289
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7599
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.906e0

DP
type: SiteQuality
SIO_000300: 2.976419e6

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5271
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6617
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.300821627352239e-4
allele num: 7546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8461
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9289
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47033
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.975053e6

QD
type: SiteQuality
SIO_000300: 2.015e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6617
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.182452406290647e-4
allele num: 8457
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.189e0

DP
type: SiteQuality
SIO_000300: 2.971373e6

FS
type: SiteQuality
SIO_000300: 5.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.132559924933891e-5
allele num: 46892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8453
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9285
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 3.015e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

QD
type: SiteQuality
SIO_000300: 2.636e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.651e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 2.967827e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 587
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.274326259323374e-5
allele num: 46791
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.395e0

QD
type: SiteQuality
SIO_000300: 3.034e1

VQSLOD
type: SiteQuality
SIO_000300: -2.953e0

DP
type: SiteQuality
SIO_000300: 2.964791e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 206
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46685
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6817
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.077586206896552e-4
allele num: 9280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.959385e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.319e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 2.965e1

VQSLOD
type: SiteQuality
SIO_000300: -3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8415
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46483
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.078748651564186e-4
allele num: 9270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

DP
type: SiteQuality
SIO_000300: 2.948855e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.301e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8401
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 573
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.156799309824221e-5
allele num: 46365
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.548e1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46262
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
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allele frequency: 2.159127712404189e-4
allele num: 9263
num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 569
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European (Non-Finnish)
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allele frequency: 8.653700538692859e-5
allele num: 46223
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 1.457938474996355e-4
allele num: 6859
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

QD
type: SiteQuality
SIO_000300: 2.902e1

DP
type: SiteQuality
SIO_000300: 2.871592e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.777e1

GenotypeQuality
all individuals: 3670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.140594228957959e-5
allele num: 46716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8349
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9257
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.61e0

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.313e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

DP
type: SiteQuality
SIO_000300: 2.875191e6

GenotypeQuality
all individuals: 2530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 587
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.138945927446954e-5
allele num: 46752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6587
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6969
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.515000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.161e1

VQSLOD
type: SiteQuality
SIO_000300: -6.36e-1

FS
type: SiteQuality
SIO_000300: 1.664e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 2.887093e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
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variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.134836258059007e-5
allele num: 46842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6595
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 4.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.338e0

VQSLOD
type: SiteQuality
SIO_000300: -3.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 2.881e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

DP
type: SiteQuality
SIO_000300: 2.899171e6

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.327512022272843e-5
allele num: 47412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 1.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 2.941134e6

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7405
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8611
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.549875754348598e-4
allele num: 8451
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.264648849169547e-4
allele num: 47444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 2.94299e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.063e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

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

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8669
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9289
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.106726778604083e-5
allele num: 47467
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.94409e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 8.432e0

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.277e0

VQSLOD
type: SiteQuality
SIO_000300: -7.176e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.095170298981492e-4
allele num: 9131
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8469
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.518999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 2.955559e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9299
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097799408420567e-5
allele num: 47669
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.961041e6

FS
type: SiteQuality
SIO_000300: 5.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

QD
type: SiteQuality
SIO_000300: 1.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9331
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.508978421608571e-4
allele num: 6627
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.623e0

VQSLOD
type: SiteQuality
SIO_000300: -3.288e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.961883e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.096480010063104e-5
allele num: 47699
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.772e1

DP
type: SiteQuality
SIO_000300: 2.963185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1071
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47699
num of homozygotes: 0

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.963185e6

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47831
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8495
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 9827
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.507386192342478e-4
allele num: 6634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.97597e6

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8495
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.270378730875344e-5
allele num: 47844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.75e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.398e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
SIO_000300: 2.977032e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9947
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.088511100436499e-5
allele num: 47881
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.980274e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 2.348e1

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.414e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.087944210130705e-5
allele num: 47894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.773e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.48e-2

DP
type: SiteQuality
SIO_000300: 2.981277e6

VQSLOD
type: SiteQuality
SIO_000300: -6.270000000000001e-2

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.043863128666569e-4
allele num: 47899
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.147074610842727e-4
allele num: 9315
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9973
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.699e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.049999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.982046e6

FS
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 2785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35717
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47899
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.004205888243541e-4
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.073e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.292e-1

QD
type: SiteQuality
SIO_000300: 1.82e1

DP
type: SiteQuality
SIO_000300: 2.981962e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeQuality
all individuals: 2782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506931886678722e-4
allele num: 6636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.982295e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.821e0

QD
type: SiteQuality
SIO_000300: 1.256e1

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

GenotypeQuality
all individuals: 2771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.087813432991628e-5
allele num: 47897
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9987
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.98227e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

VQSLOD
type: SiteQuality
SIO_000300: -6.261e-1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35719
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.252740369558409e-4
allele num: 47895
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.824e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 2.982522e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

QD
type: SiteQuality
SIO_000300: 1.955e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

GenotypeQuality
all individuals: 35719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47893
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.003210272873194e-4
allele num: 9968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 2.982064e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

FS
type: SiteQuality
SIO_000300: 1.6246e1