1-43902838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902838
    reference: chr 1
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3338-4C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5864-4C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.25e1
  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
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  variant carriers: 1
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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  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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
  all individuals: 4578
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 9.25e1
  variant carriers: 0
hgvs: c.5864-4C>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-43902845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902845
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5867A>G
  hgvsp: ENSP00000457168.1:p.Tyr1956Cys
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3341A>G
  hgvsp: ENSP00000361519.1:p.Tyr1114Cys
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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
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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: 2743
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  variant carriers: 0
hgvs: p.Tyr1956Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16458
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-43902855-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902855
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3351T>G
  hgvsp: ENSP00000361519.1:p.Asp1117Glu
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5877T>G
  hgvsp: ENSP00000457168.1:p.Asp1959Glu
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14687
  bin: 3.25e1
  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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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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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4150
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  variant carriers: 0
hgvs: p.Asp1959Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-43902866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902866
    reference: chr 1
allele count: 9
allele frequency: 7.415952537903758e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5888C>T
  hgvsp: ENSP00000457168.1:p.Ala1963Val
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3362C>T
  hgvsp: ENSP00000361519.1:p.Ala1121Val
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 4.25e1
  variant carriers: 0
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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  bin: 4.75e1
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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1963Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-43902867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902867
    reference: chr 1
allele count: 9
allele frequency: 7.415097137772504e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5889G>A
  hgvsp: ENST00000562955.1:c.5889G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3363G>A
  hgvsp: ENST00000372442.1:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11372
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1963Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.497211728728189e-5
  allele num: 66708
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-43902871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902871
    reference: chr 1
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5893C>T
  hgvsp: ENSP00000457168.1:p.Arg1965Cys
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3367C>T
  hgvsp: ENSP00000361519.1:p.Arg1123Cys
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
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genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11365
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9023
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
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genotype quality: GenotypeQuality
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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: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
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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: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1965Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-43902872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902872
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5894G>A
  hgvsp: ENSP00000457168.1:p.Arg1965His
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3368G>A
  hgvsp: ENSP00000361519.1:p.Arg1123His
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
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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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  bin: 3.75e1
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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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  bin: 8.25e1
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1965His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-43902875-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902875
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902875
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3371G>T
  hgvsp: ENSP00000361519.1:p.Gly1124Val
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5897G>T
  hgvsp: ENSP00000457168.1:p.Gly1966Val
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  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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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2745
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1966Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-43902884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902884
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902884
    reference: chr 1
allele count: 11
allele frequency: 9.060209208467177e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5906C>A
  hgvsp: ENSP00000457168.1:p.Ala1969Glu
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3380C>A
  hgvsp: ENSP00000361519.1:p.Ala1127Glu
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 1
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
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
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genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11361
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 20982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1969Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 9
  allele frequency: 8.648856428983279e-4
  allele num: 10406
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-43902889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902889
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3385A>G
  hgvsp: ENSP00000361519.1:p.Thr1129Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5911A>G
  hgvsp: ENSP00000457168.1:p.Thr1971Ala
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
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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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1971Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66738
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-43902924-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902924
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902921
    reference: chr 1
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3423_3425delTGT
  hgvsp: ENSP00000361519.1:p.Val1142del
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5949_5951delTGT
  hgvsp: ENSP00000457168.1:p.Val1984del
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 7.25e1
  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: 9029
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 20985
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5430
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1984del
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CGTT
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-43902924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902924
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902924
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3420C>T
  hgvsp: ENST00000372442.1:c.3420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5946C>T
  hgvsp: ENST00000562955.1:c.5946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9029
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4152
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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: 2746
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11356
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1982Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-43902938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902938
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5960C>T
  hgvsp: ENSP00000457168.1:p.Thr1987Ile
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3434C>T
  hgvsp: ENSP00000361519.1:p.Thr1145Ile
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
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
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genotype quality: GenotypeQuality
  all individuals: 9028
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1987Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.4983967155144e-5
  allele num: 66738
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43902947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902947
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5969G>A
  hgvsp: ENSP00000457168.1:p.Arg1990Gln
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3443G>A
  hgvsp: ENSP00000361519.1:p.Arg1148Gln
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 79
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2746
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1990Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66736
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
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site quality: DP

1-43902952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902952
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3448C>T
  hgvsp: ENSP00000361519.1:p.His1150Tyr
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5974C>T
  hgvsp: ENSP00000457168.1:p.His1992Tyr
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.His1992Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-43902958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902958
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.5980C>T
  hgvsp: ENSP00000457168.1:p.Arg1994Cys
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3454C>T
  hgvsp: ENSP00000361519.1:p.Arg1152Cys
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg1994Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
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1-43902980-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902981
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3481dupG
  hgvsp: ENSP00000361519.1:p.Val1161GlyfsTer46
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6007dupG
  hgvsp: ENSP00000457168.1:p.Val2003GlyfsTer46
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val2003GlyfsTer46
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-43902984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902984
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6006G>A
  hgvsp: ENST00000562955.1:c.6006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3480G>A
  hgvsp: ENST00000372442.1:c.3480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8575
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
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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
  all individuals: 271
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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: 705
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genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2381
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4153
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly2002Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS

1-43902987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902987
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6009C>T
  hgvsp: ENST00000562955.1:c.6009C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3483C>T
  hgvsp: ENST00000372442.1:c.3483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7438
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2745
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val2003Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-43902992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43902992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43902992
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6014G>A
  hgvsp: ENSP00000457168.1:p.Arg2005Gln
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3488G>A
  hgvsp: ENSP00000361519.1:p.Arg1163Gln
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 466
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7425
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genotype depth: GenotypeDepth
  all individuals: 181
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2005Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-43903000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903000
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+6T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+6T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9002
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  variant carriers: 0
hgvs: c.6016+6T>C
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-43903006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903006
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903006
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+12G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+12G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
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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
  all individuals: 78
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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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  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
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4154
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

1-43903014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903014
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+20G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+20G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  bin: 1.25e1
  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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  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
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-43903015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903015
    reference: chr 1
allele count: 13
allele frequency: 1.070840197693575e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+21G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+21G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
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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
  all individuals: 143
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66730
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

1-43903017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903017
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+23C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+23C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16941
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-43903021-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903021
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903021
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+27T>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+27T>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20871
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-43903023-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903023
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+29A>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+29A>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8588
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 464
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-43903027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903027
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6016+33T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3490+33T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-43903036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903036
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-41T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-41T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-43903043-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903043
    reference: chr 1
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-34A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-34A>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-43903054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903054
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-23C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-23C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 2.25e1
  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
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-43903062-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903062
    reference: chr 1
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-15A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-15A>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 4.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-43903063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903063
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-14T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-14T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
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site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
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1-43903070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903070
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903070
    reference: chr 1
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6017-7C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3491-7C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11339
  bin: 9.75e1
  variant carriers: 3
hgvs: c.6017-7C>T
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-43903087-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903087
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3501C>G
  hgvsp: ENST00000372442.1:c.3501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6027C>G
  hgvsp: ENST00000562955.1:c.6027C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala2009Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-43903125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903125
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3539G>A
  hgvsp: ENSP00000361519.1:p.Arg1180Gln
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6065G>A
  hgvsp: ENSP00000457168.1:p.Arg2022Gln
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2022Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-43903149-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903149
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3563A>C
  hgvsp: ENSP00000361519.1:p.Glu1188Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6089A>C
  hgvsp: ENSP00000457168.1:p.Glu2030Ala
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7087
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.25e1
  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
  all individuals: 11336
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genotype quality: GenotypeQuality
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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: 9012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu2030Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-43903152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903152
    reference: chr 1
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3566G>A
  hgvsp: ENSP00000361519.1:p.Arg1189Gln
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6092G>A
  hgvsp: ENSP00000457168.1:p.Arg2031Gln
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 704
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genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 11336
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2391
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20906
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2031Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-43903156-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903156
    reference: chr 1
allele count: 7
allele frequency: 5.766157597324503e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3570A>T
  hgvsp: ENST00000372442.1:c.3570A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6096A>T
  hgvsp: ENST00000562955.1:c.6096A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11336
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2032Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

1-43903161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903161
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3575A>G
  hgvsp: ENSP00000361519.1:p.Lys1192Arg
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6101A>G
  hgvsp: ENSP00000457168.1:p.Lys2034Arg
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys2034Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-43903163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903163
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3577G>A
  hgvsp: ENSP00000361519.1:p.Ala1193Thr
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6103G>A
  hgvsp: ENSP00000457168.1:p.Ala2035Thr
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala2035Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155535012710885e-4
  allele num: 8654
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-43903168-GTAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903165
    reference: chr 1
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3585_3587delCTA
  hgvsp: ENSP00000361519.1:p.Tyr1196del
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6111_6113delCTA
  hgvsp: ENSP00000457168.1:p.Tyr2038del
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11332
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Tyr2038del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66730
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: GTAC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-43903189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903189
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3593+10C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6119+10C>T
  variant of: http://identifiers.org/hgnc/29040
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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-43903195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903195
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6119+16A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3593+16A>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
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site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-43903203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903203
    reference: chr 1
allele count: 4
allele frequency: 3.298425002061515e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3593+24T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6119+24T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 3.25e1
  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 quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 8634
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-43903213-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903213
    reference: chr 1
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6119+34A>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3593+34A>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-43903221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903221
    reference: chr 1
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6119+42T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3593+42T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66620
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
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site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

1-43903224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903224
    reference: chr 1
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-42C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-42C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
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  variant carriers: 0
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: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10386
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
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site quality: DP
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http://identifiers.org/exac.variant/1-43903230-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903230
    reference: chr 1
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-36A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-36A>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  type: Population
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  allele num: 16502
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
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site quality: InbreedingCoeff
site quality: FS
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site quality: QD
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1-43903231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903231
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-35G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-35G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  allele num: 11532
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population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
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site quality: MQRankSum
site quality: InbreedingCoeff
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1-43903236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903236
    reference: chr 1
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-30C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-30C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10378
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-43903238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903238
    reference: chr 1
allele count: 3
allele frequency: 2.478847170809096e-5
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-28T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-28T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  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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  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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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6566
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-43903239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903239
    reference: chr 1
allele count: 227
allele frequency: 1.876250144644835e-3
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-27G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-27G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 227
num of homozygotes: 0
population: African
  type: Population
  allele count: 7
  allele frequency: 6.745037579495086e-4
  allele num: 10378
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-43903240-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903240
    reference: chr 1
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-26T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-26T>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  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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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66538
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-43903242-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903242
    reference: chr 1
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-24C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-24C>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8588
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-43903249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903249
    reference: chr 1
allele count: 2
allele frequency: 1.652674026574998e-5
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-17A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-17A>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11174
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
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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: 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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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10376
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

1-43903258-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903258
    reference: chr 1
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3594-8T>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6120-8T>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
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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: 1606
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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: 1
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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  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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  bin: 7.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 11170
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
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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
  all individuals: 2339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
hgvs: c.6120-8T>G
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6552
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-43903283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903283
    reference: chr 1
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6137G>A
  hgvsp: ENSP00000457168.1:p.Cys2046Tyr
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3611G>A
  hgvsp: ENSP00000361519.1:p.Cys1204Tyr
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.19G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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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: 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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4006
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  variant carriers: 0
hgvs: p.Cys2046Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

1-43903284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903284
    reference: chr 1
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.20C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3612C>T
  hgvsp: ENST00000372442.1:c.3612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6138C>T
  hgvsp: ENST00000562955.1:c.6138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 287
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
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  variant carriers: 0
hgvs: p.Cys2046Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

1-43903291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903291
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903291
    reference: chr 1
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6145C>T
  hgvsp: ENSP00000457168.1:p.Arg2049Trp
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3619C>T
  hgvsp: ENSP00000361519.1:p.Arg1207Trp
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.27C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11172
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg2049Trp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-43903308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903308
    reference: chr 1
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.44T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3636T>C
  hgvsp: ENST00000372442.1:c.3636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6162T>C
  hgvsp: ENST00000562955.1:c.6162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8035
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp2054Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-43903310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903310
    reference: chr 1
allele count: 7
allele frequency: 5.785506479767257e-5
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3638C>T
  hgvsp: ENSP00000361519.1:p.Ala1213Val
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.46C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6164C>T
  hgvsp: ENSP00000457168.1:p.Ala2055Val
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 11182
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 19429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2055Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-43903311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903311
    reference: chr 1
allele count: 3
allele frequency: 2.479052010511181e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.47G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3639G>A
  hgvsp: ENST00000372442.1:c.3639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6165G>A
  hgvsp: ENST00000562955.1:c.6165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19654
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genotype quality: GenotypeQuality
  all individuals: 2376
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11185
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2055Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-43903315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903315
    reference: chr 1
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6169C>T
  hgvsp: ENSP00000457168.1:p.Pro2057Ser
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3643C>T
  hgvsp: ENSP00000361519.1:p.Pro1215Ser
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.51C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11180
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro2057Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-43903317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903317
    reference: chr 1
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.53C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6171C>T
  hgvsp: ENST00000562955.1:c.6171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3645C>T
  hgvsp: ENST00000372442.1:c.3645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2057Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-43903318-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903318
    reference: chr 1
allele count: 27
allele frequency: 2.23040956928313e-4
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3646C>G
  hgvsp: ENSP00000361519.1:p.Pro1216Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6172C>G
  hgvsp: ENSP00000457168.1:p.Pro2058Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.54C>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11202
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 5204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro2058Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-43903319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903319
    reference: chr 1
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.55C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3647C>T
  hgvsp: ENSP00000361519.1:p.Pro1216Leu
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6173C>T
  hgvsp: ENSP00000457168.1:p.Pro2058Leu
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4056
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19348
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2058Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-43903326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903326
    reference: chr 1
allele count: 4
allele frequency: 3.305074942574323e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3654C>T
  hgvsp: ENST00000372442.1:c.3654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6180C>T
  hgvsp: ENST00000562955.1:c.6180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.62C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 3.25e1
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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
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11192
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2060Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-43903327-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903327
    reference: chr 1
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6181G>T
  hgvsp: ENSP00000457168.1:p.Ala2061Ser
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3655G>T
  hgvsp: ENSP00000361519.1:p.Ala1219Ser
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.63G>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
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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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  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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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11192
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.25e1
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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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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2061Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-43903350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903350
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903350
    reference: chr 1
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6204C>T
  hgvsp: ENST00000562955.1:c.6204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.86C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3678C>T
  hgvsp: ENST00000372442.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro2068Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-43903355-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903355
    reference: chr 1
allele count: 72
allele frequency: 5.945499587118084e-4
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3683A>T
  hgvsp: ENSP00000361519.1:p.Tyr1228Phe
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.91A>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6209A>T
  hgvsp: ENSP00000457168.1:p.Tyr2070Phe
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 371
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5374
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr2070Phe
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-43903355-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903355
    reference: chr 1
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6209A>C
  hgvsp: ENSP00000457168.1:p.Tyr2070Ser
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.91A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3683A>C
  hgvsp: ENSP00000361519.1:p.Tyr1228Ser
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19241
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr2070Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-43903357-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903357
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903357
    reference: chr 1
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3685T>G
  hgvsp: ENSP00000361519.1:p.Ser1229Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6211T>G
  hgvsp: ENSP00000457168.1:p.Ser2071Ala
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.93T>G
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12811
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
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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
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2756
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser2071Ala
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: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-43903359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903359
    reference: chr 1
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6213T>C
  hgvsp: ENST00000562955.1:c.6213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.95T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3687T>C
  hgvsp: ENST00000372442.1:c.3687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5044
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4181
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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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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: 5400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2071Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-43903367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903367
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903367
    reference: chr 1
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3695C>T
  hgvsp: ENSP00000361519.1:p.Ala1232Val
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.103C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6221C>T
  hgvsp: ENSP00000457168.1:p.Ala2074Val
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
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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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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  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: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 337
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 349
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genotype quality: GenotypeQuality
  all individuals: 2442
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genotype quality: GenotypeQuality
  all individuals: 368
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11261
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2074Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-43903370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903370
    reference: chr 1
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6224C>T
  hgvsp: ENSP00000457168.1:p.Ser2075Leu
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3698C>T
  hgvsp: ENSP00000361519.1:p.Ser1233Leu
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.106C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2075Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-43903371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43903371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43903371
    reference: chr 1
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000470897
  gene symbol: SZT2
  hgvsc: ENST00000470897.1:n.107G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.3699G>A
  hgvsp: ENST00000372442.1:c.3699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.6225G>A
  hgvsp: ENST00000562955.1:c.6225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
hgvs: c.6225G>A
num of homozygotes: 0
reference allele: G

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.115e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 2.076309e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 3.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.225e0

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.601e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.71e0

DP
type: SiteQuality
SIO_000300: 2.078831e6

VQSLOD
type: SiteQuality
SIO_000300: -3.122e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.242e0

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: -2.883e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.059e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 2.080921e6

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.995232526760817e-5
allele num: 66702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 2.082954e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.082705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 1.801e0

DP
type: SiteQuality
SIO_000300: 2.08217e6

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.493e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.081712e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 6.233e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

QD
type: SiteQuality
SIO_000300: 9.82e0

DP
type: SiteQuality
SIO_000300: 2.08179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.564e0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 1.107e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.082622e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.236e1

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

FS
type: SiteQuality
SIO_000300: 3.285e0

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 2.081738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491759065028469e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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MQRankSum
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

African
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
allele num: 11578
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European (Finnish)
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allele num: 6614
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South Asian
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MQRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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African
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Latino
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allele num: 11578
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European (Finnish)
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East Asian
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Other
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South Asian
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FS
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele num: 11578
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Other
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DP
type: SiteQuality
SIO_000300: 2.081709e6

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66734
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African
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allele num: 10406
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

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

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
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ReadPosRankSum
type: SiteQuality
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South Asian
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.795e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.277e0

DP
type: SiteQuality
SIO_000300: 2.081169e6

East Asian
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.17e-1

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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East Asian
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allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.448e1

European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

Other
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South Asian
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ClippingRankSum
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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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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African
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
allele num: 908
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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QD
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66732
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African
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European (Finnish)
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East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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allele frequency: 3.028467595396729e-4
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Latino
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.344e1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

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

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
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European (Finnish)
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Latino
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African
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

MQ
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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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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African
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Latino
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.127e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 5.745e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.315e-1

DP
type: SiteQuality
SIO_000300: 2.080457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.57e-1

FS
type: SiteQuality
SIO_000300: 4.787e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 2.080584e6

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: -4.122e-1

DP
type: SiteQuality
SIO_000300: 2.080707e6

FS
type: SiteQuality
SIO_000300: 5.648e0

MQRankSum
type: SiteQuality
SIO_000300: -1.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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East Asian
type: Population
allele count: 0
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allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 2.081145e6

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.485e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

DP
type: SiteQuality
SIO_000300: 2.081781e6

FS
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

MQ
type: SiteQuality
SIO_000300: 5.855e1

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.183e0

DP
type: SiteQuality
SIO_000300: 2.082504e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 2.082364e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8654
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MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.742e0

FS
type: SiteQuality
SIO_000300: 1.104e0

DP
type: SiteQuality
SIO_000300: 2.082987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 908
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.345e0

VQSLOD
type: SiteQuality
SIO_000300: -2.195e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 2.083344e6

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 1.253e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.083601e6

East Asian
type: Population
allele count: 0
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African
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allele num: 10402
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.083351e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

FS
type: SiteQuality
SIO_000300: 2.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Latino
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allele num: 11576
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 3.175e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 2.083378e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048972007432716e-4
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 908
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

DP
type: SiteQuality
SIO_000300: 2.083387e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 3.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
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South Asian
type: Population
allele count: 0
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allele num: 16512
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QD
type: SiteQuality
SIO_000300: 1.72e1

DP
type: SiteQuality
SIO_000300: 2.083e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.432e0

FS
type: SiteQuality
SIO_000300: 7.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.421e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.664e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.986e0

DP
type: SiteQuality
SIO_000300: 2.082988e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e0

FS
type: SiteQuality
SIO_000300: 7.095e0

VQSLOD
type: SiteQuality
SIO_000300: -3.11e-2

Latino
type: Population
allele count: 5
allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 5.689e1

MQRankSum
type: SiteQuality
SIO_000300: -2.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 1.088e0

DP
type: SiteQuality
SIO_000300: 2.082808e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.079925e6

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

DP
type: SiteQuality
SIO_000300: 2.077598e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000600060006001e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.072165e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 1.592e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 2.059802e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.013e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

DP
type: SiteQuality
SIO_000300: 2.045926e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.055e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.519e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.616e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.040378e6

QD
type: SiteQuality
SIO_000300: 1.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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VQSLOD
type: SiteQuality
SIO_000300: -1.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

DP
type: SiteQuality
SIO_000300: 2.030921e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 4.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.542e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.673e1

DP
type: SiteQuality
SIO_000300: 2.029923e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.025232e6

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 2.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.825e0

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.492433061699651e-4
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 2.023939e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

European (Non-Finnish)
type: Population
allele count: 161
allele frequency: 2.42039748639466e-3
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
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Latino
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allele count: 41
allele frequency: 3.554091539528433e-3
allele num: 11536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.675807434491164e-3
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.555555555555556e-3
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VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.02441e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.536e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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East Asian
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 2.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 1.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e0

DP
type: SiteQuality
SIO_000300: 2.021292e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 7.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 5.06e0

DP
type: SiteQuality
SIO_000300: 2.020079e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8592
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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FS
type: SiteQuality
SIO_000300: 1.786e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.059e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

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

Other
type: Population
allele count: 0
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allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 2.01483e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
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Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.014814e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 2.866e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.01522e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.111e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.84e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.605e0

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.016662e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 4.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.017398e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.821714840903571e-4
allele num: 16468
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.010157165609881e-5
allele num: 66554
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.018651e6

FS
type: SiteQuality
SIO_000300: 7.24e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.018438e6

FS
type: SiteQuality
SIO_000300: 2.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
all individuals: 4043
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 4.616e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

DP
type: SiteQuality
SIO_000300: 2.018181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.017856e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

African
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allele count: 22
allele frequency: 2.121504339440694e-3
allele num: 10370
num of homozygotes: 0

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

South Asian
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allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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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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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.62e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
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allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

FS
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.017987e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.018077e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
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South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele frequency: 6.270499710592321e-3
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502611514678514e-5
allele num: 66628
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 2.025127e6

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.025127e6

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 11247
bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 2.02535e6

QD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

GenotypeQuality
all individuals: 4529
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.054e0

DP
type: SiteQuality
SIO_000300: 2.025812e6

MQ
type: SiteQuality
SIO_000300: 5.734e1

FS
type: SiteQuality
SIO_000300: 2.655e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 8227
bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

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

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

Other
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allele count: 0
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allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 5.214e0

QD
type: SiteQuality
SIO_000300: 1.663e1

DP
type: SiteQuality
SIO_000300: 2.028633e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.459999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.555e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
all individuals: 2769
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11259
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.32e-2

DP
type: SiteQuality
SIO_000300: 2.030483e6

QD
type: SiteQuality
SIO_000300: 1.99e1

FS
type: SiteQuality
SIO_000300: 1.6656e1

VQSLOD
type: SiteQuality
SIO_000300: -9.545e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0