2-191864458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191864458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191864458
    reference: chr 2
allele count: 2
allele frequency: 1.751589567532536e-5
allele num: 114182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.463-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.469-28G>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9019
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-191864462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191864462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191864462
    reference: chr 2
allele count: 1
allele frequency: 8.800337932976626e-6
allele num: 113632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.469-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.463-32A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
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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: 9446
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
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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: 10677
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-191864463-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191864463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191864463
    reference: chr 2
allele count: 1
allele frequency: 8.847365254627173e-6
allele num: 113028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.469-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.463-33C>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
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
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1933
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4795
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-191864466-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191864466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191864466
    reference: chr 2
allele count: 1
allele frequency: 8.93160179346564e-6
allele num: 111962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.469-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.463-36G>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 4.75e1
  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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  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-191865750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865750
    reference: chr 2
allele count: 12
allele frequency: 9.921291090680601e-5
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+50A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-191865755-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865755
    reference: chr 2
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+45A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+45A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17862
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-191865757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865757
    reference: chr 2
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+43G>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18177
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-191865759-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865760
    reference: chr 2
allele count: 2
allele frequency: 1.651909607506277e-5
allele num: 121072
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+40dupT
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-191865760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865760
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865760
    reference: chr 2
allele count: 12
allele frequency: 9.910639071042764e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+40T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-191865771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865771
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+29T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-191865772-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865772
    reference: chr 2
allele count: 4
allele frequency: 3.300221114814693e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+28A>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-191865777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865777
    reference: chr 2
allele count: 509
allele frequency: 4.197938144329897e-3
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+23C>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18361
  bin: 9.75e1
  variant carriers: 494
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 15
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-191865779-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865777
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+19_468+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+19_462+20delCA
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: ATG
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

2-191865782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865782
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+18A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

2-191865792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865792
    reference: chr 2
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.468+8T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.462+8T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: c.462+8T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-191865801-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865801
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.461T>C
  hgvsp: ENSP00000386244.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.461T>C
  hgvsp: ENSP00000354394.3:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.461T>C
  hgvsp: ENSP00000376136.3:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.467T>C
  hgvsp: ENSP00000376137.2:p.Met156Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.461T>C
  hgvsp: ENSP00000438703.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.461T>C
  hgvsp: ENSP00000402548.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.461T>C
  hgvsp: ENSP00000394512.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met154Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-191865816-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865816
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.446T>G
  hgvsp: ENSP00000411398.1:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.446T>G
  hgvsp: ENSP00000376136.3:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.446T>G
  hgvsp: ENSP00000402548.1:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.446T>G
  hgvsp: ENSP00000386244.1:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.446T>G
  hgvsp: ENSP00000438703.1:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.446T>G
  hgvsp: ENSP00000394512.1:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.452T>G
  hgvsp: ENSP00000376137.2:p.Val151Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.446T>G
  hgvsp: ENSP00000354394.3:p.Val149Gly
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val149Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-191865823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865823
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.439A>G
  hgvsp: ENSP00000402548.1:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.439A>G
  hgvsp: ENSP00000394512.1:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.439A>G
  hgvsp: ENSP00000386244.1:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.439A>G
  hgvsp: ENSP00000438703.1:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.439A>G
  hgvsp: ENSP00000354394.3:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.439A>G
  hgvsp: ENSP00000411398.1:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.439A>G
  hgvsp: ENSP00000376136.3:p.Arg147Gly
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.445A>G
  hgvsp: ENSP00000376137.2:p.Arg149Gly
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg147Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-191865830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865830
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.432T>C
  hgvsp: ENST00000540176.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.432T>C
  hgvsp: ENST00000409465.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.432T>C
  hgvsp: ENST00000361099.3:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.432T>C
  hgvsp: ENST00000392322.3:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.432T>C
  hgvsp: ENST00000452281.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.432T>C
  hgvsp: ENST00000454414.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.438T>C
  hgvsp: ENST00000392323.2:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.432T>C
  hgvsp: ENST00000424722.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser144Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-191865833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865833
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.429C>T
  hgvsp: ENST00000540176.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.429C>T
  hgvsp: ENST00000361099.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.435C>T
  hgvsp: ENST00000392323.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.429C>T
  hgvsp: ENST00000409465.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.429C>T
  hgvsp: ENST00000454414.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.429C>T
  hgvsp: ENST00000452281.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.429C>T
  hgvsp: ENST00000424722.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.429C>T
  hgvsp: ENST00000392322.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18062
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp143Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-191865836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865836
    reference: chr 2
allele count: 10
allele frequency: 8.238182327451271e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.426T>C
  hgvsp: ENST00000392322.3:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.432T>C
  hgvsp: ENST00000392323.2:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.426T>C
  hgvsp: ENST00000454414.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.426T>C
  hgvsp: ENST00000424722.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.426T>C
  hgvsp: ENST00000361099.3:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.426T>C
  hgvsp: ENST00000409465.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.426T>C
  hgvsp: ENST00000540176.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.426T>C
  hgvsp: ENST00000452281.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
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: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
hgvs: p.Leu142Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-191865839-CTCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865835
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.419_422delAAGA
  hgvsp: ENSP00000354394.3:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.419_422delAAGA
  hgvsp: ENSP00000402548.1:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.419_422delAAGA
  hgvsp: ENSP00000411398.1:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.419_422delAAGA
  hgvsp: ENSP00000376136.3:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.419_422delAAGA
  hgvsp: ENSP00000438703.1:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.419_422delAAGA
  hgvsp: ENSP00000386244.1:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.425_428delAAGA
  hgvsp: ENSP00000376137.2:p.Lys142SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.419_422delAAGA
  hgvsp: ENSP00000394512.1:p.Lys140SerfsTer9
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys140SerfsTer9
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: CTCTT
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-191865842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865842
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.420A>G
  hgvsp: ENST00000392322.3:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.420A>G
  hgvsp: ENST00000424722.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.426A>G
  hgvsp: ENST00000392323.2:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.420A>G
  hgvsp: ENST00000452281.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.420A>G
  hgvsp: ENST00000361099.3:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.420A>G
  hgvsp: ENST00000540176.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.420A>G
  hgvsp: ENST00000409465.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.420A>G
  hgvsp: ENST00000454414.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys140Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-191865851-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865851
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.411C>A
  hgvsp: ENSP00000354394.3:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.411C>A
  hgvsp: ENSP00000438703.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.411C>A
  hgvsp: ENSP00000402548.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.411C>A
  hgvsp: ENSP00000411398.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.411C>A
  hgvsp: ENSP00000386244.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.411C>A
  hgvsp: ENSP00000394512.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.417C>A
  hgvsp: ENSP00000376137.2:p.Asp139Glu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.411C>A
  hgvsp: ENSP00000376136.3:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp137Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-191865852-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865852
    reference: chr 2
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.410A>C
  hgvsp: ENSP00000402548.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.410A>C
  hgvsp: ENSP00000386244.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.410A>C
  hgvsp: ENSP00000376136.3:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.410A>C
  hgvsp: ENSP00000354394.3:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.410A>C
  hgvsp: ENSP00000411398.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.410A>C
  hgvsp: ENSP00000438703.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.416A>C
  hgvsp: ENSP00000376137.2:p.Asp139Ala
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.410A>C
  hgvsp: ENSP00000394512.1:p.Asp137Ala
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp137Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

2-191865882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865882
    reference: chr 2
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.380C>T
  hgvsp: ENSP00000438703.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.380C>T
  hgvsp: ENSP00000394512.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.380C>T
  hgvsp: ENSP00000402548.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.380C>T
  hgvsp: ENSP00000354394.3:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.380C>T
  hgvsp: ENSP00000386244.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.380C>T
  hgvsp: ENSP00000411398.1:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.380C>T
  hgvsp: ENSP00000376136.3:p.Ser127Leu
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.386C>T
  hgvsp: ENSP00000376137.2:p.Ser129Leu
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18062
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser127Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-191865884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865884
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.378G>T
  hgvsp: ENSP00000386244.1:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.378G>T
  hgvsp: ENSP00000438703.1:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.378G>T
  hgvsp: ENSP00000354394.3:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.378G>T
  hgvsp: ENSP00000376136.3:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.384G>T
  hgvsp: ENSP00000376137.2:p.Gln128His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.378G>T
  hgvsp: ENSP00000402548.1:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.378G>T
  hgvsp: ENSP00000411398.1:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.378G>T
  hgvsp: ENSP00000394512.1:p.Gln126His
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln126His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-191865885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865885
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865885
    reference: chr 2
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.377A>G
  hgvsp: ENSP00000376136.3:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.383A>G
  hgvsp: ENSP00000376137.2:p.Gln128Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.377A>G
  hgvsp: ENSP00000402548.1:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.377A>G
  hgvsp: ENSP00000386244.1:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.377A>G
  hgvsp: ENSP00000354394.3:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.377A>G
  hgvsp: ENSP00000438703.1:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.377A>G
  hgvsp: ENSP00000411398.1:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.377A>G
  hgvsp: ENSP00000394512.1:p.Gln126Arg
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 8.25e1
  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: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln126Arg
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

2-191865892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865892
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-3C>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20604
  bin: 6.25e1
  variant carriers: 0
hgvs: c.373-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-191865899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865899
    reference: chr 2
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-10C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-191865910-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865910
    reference: chr 2
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-21A>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-191865913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865913
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865913
    reference: chr 2
allele count: 121
allele frequency: 9.978393890913888e-4
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-24A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18103
  bin: 9.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-191865914-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865914
    reference: chr 2
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-25T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-191865917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865917
    reference: chr 2
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-28G>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18031
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

2-191865920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865920
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865920
    reference: chr 2
allele count: 8
allele frequency: 6.599788806758183e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-31G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-31G>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18031
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-191865921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865921
    reference: chr 2
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-32C>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-191865932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191865932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191865932
    reference: chr 2
allele count: 44
allele frequency: 3.634141103787766e-4
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.379-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.373-43C>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

2-191872241-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872241
    reference: chr 2
allele count: 1
allele frequency: 8.519484060045324e-6
allele num: 117378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+48A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-191872245-T-TTTTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872250
    reference: chr 2
allele count: 1
allele frequency: 8.517597356137781e-6
allele num: 117404
alternate allele: TTTTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+39_378+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+39_372+43dupTAAAA
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

2-191872250-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872250
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872251
    reference: chr 2
allele count: 1
allele frequency: 8.500510030601837e-6
allele num: 117640
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+38dupA
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-191872254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872254
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872254
    reference: chr 2
allele count: 8
allele frequency: 6.782189969141036e-5
allele num: 117956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+35A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-191872254-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872254
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872254
    reference: chr 2
allele count: 2
allele frequency: 1.695547492285259e-5
allele num: 117956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+35A>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12519
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-191872264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872264
    reference: chr 2
allele count: 1
allele frequency: 8.382932349735938e-6
allele num: 119290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+25A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-191872273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872273
    reference: chr 2
allele count: 4
allele frequency: 3.333722267597886e-5
allele num: 119986
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+16T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+16T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-191872277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872277
    reference: chr 2
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.378+12T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.372+12T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7001
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-191872293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872293
    reference: chr 2
allele count: 3
allele frequency: 2.484801298722812e-5
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.374A>G
  hgvsp: ENSP00000376137.2:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.368A>G
  hgvsp: ENSP00000411398.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.368A>G
  hgvsp: ENSP00000386244.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.368A>G
  hgvsp: ENSP00000438703.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.368A>G
  hgvsp: ENSP00000402548.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.368A>G
  hgvsp: ENSP00000354394.3:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.368A>G
  hgvsp: ENSP00000376136.3:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.368A>G
  hgvsp: ENSP00000394512.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12534
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7046
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn123Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-191872294-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872294
    reference: chr 2
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.367A>C
  hgvsp: ENSP00000438703.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.367A>C
  hgvsp: ENSP00000376136.3:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.373A>C
  hgvsp: ENSP00000376137.2:p.Asn125His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.367A>C
  hgvsp: ENSP00000394512.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.367A>C
  hgvsp: ENSP00000354394.3:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.367A>C
  hgvsp: ENSP00000402548.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.367A>C
  hgvsp: ENSP00000386244.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.367A>C
  hgvsp: ENSP00000411398.1:p.Asn123His
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn123His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-191872307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872307
    reference: chr 2
allele count: 383
allele frequency: 3.165027683662507e-3
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.354C>T
  hgvsp: ENST00000540176.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.354C>T
  hgvsp: ENST00000454414.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.354C>T
  hgvsp: ENST00000409465.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.360C>T
  hgvsp: ENST00000392323.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.354C>T
  hgvsp: ENST00000452281.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.354C>T
  hgvsp: ENST00000392322.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.354C>T
  hgvsp: ENST00000361099.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.354C>T
  hgvsp: ENST00000424722.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13673
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn118Asn
num of homozygotes: 9
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-191872343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872343
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872343
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.318C>T
  hgvsp: ENST00000361099.3:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.318C>T
  hgvsp: ENST00000454414.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.318C>T
  hgvsp: ENST00000424722.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.324C>T
  hgvsp: ENST00000392323.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.318C>T
  hgvsp: ENST00000409465.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.318C>T
  hgvsp: ENST00000392322.3:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.318C>T
  hgvsp: ENST00000540176.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.318C>T
  hgvsp: ENST00000452281.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr106Tyr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-191872346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872346
    reference: chr 2
allele count: 3
allele frequency: 2.476923330966496e-5
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.315T>C
  hgvsp: ENST00000424722.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.315T>C
  hgvsp: ENST00000454414.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.315T>C
  hgvsp: ENST00000409465.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.315T>C
  hgvsp: ENST00000540176.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.315T>C
  hgvsp: ENST00000392322.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.315T>C
  hgvsp: ENST00000452281.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.315T>C
  hgvsp: ENST00000361099.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.321T>C
  hgvsp: ENST00000392323.2:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile105Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-191872383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872383
    reference: chr 2
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.278A>G
  hgvsp: ENSP00000386244.1:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.278A>G
  hgvsp: ENSP00000411398.1:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.284A>G
  hgvsp: ENSP00000376137.2:p.Asn95Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.278A>G
  hgvsp: ENSP00000376136.3:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.278A>G
  hgvsp: ENSP00000402548.1:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.278A>G
  hgvsp: ENSP00000354394.3:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.278A>G
  hgvsp: ENSP00000394512.1:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.278A>G
  hgvsp: ENSP00000438703.1:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn93Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-191872390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872390
    reference: chr 2
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-3T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: c.274-3T>C
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-191872391-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872391
    reference: chr 2
allele count: 7
allele frequency: 5.802675862526319e-5
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-4C>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 8.25e1
  variant carriers: 0
hgvs: c.274-4C>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-191872396-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872396
    reference: chr 2
allele count: 5
allele frequency: 4.150135294410598e-5
allele num: 120478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-9C>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12556
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

2-191872400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872400
    reference: chr 2
allele count: 27
allele frequency: 2.242897491277621e-4
allele num: 120380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-13C>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20552
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

2-191872414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872414
    reference: chr 2
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-27A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-27A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-191872419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872419
    reference: chr 2
allele count: 2
allele frequency: 1.66814019050161e-5
allele num: 119894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-32A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-191872424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872424
    reference: chr 2
allele count: 10
allele frequency: 8.351149118118654e-5
allele num: 119744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-37A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12561
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-191872424-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872425
    reference: chr 2
allele count: 3
allele frequency: 2.505344735435596e-5
allele num: 119744
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-38dupC
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12561
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-191872436-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872437
    reference: chr 2
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-50dupG
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-50dupG
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
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: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-191872436-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872436
    reference: chr 2
allele count: 6
allele frequency: 5.034486230680159e-5
allele num: 119178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-49T>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-191872437-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872437
    reference: chr 2
allele count: 5
allele frequency: 4.195405192233466e-5
allele num: 119178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-50G>T
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-191872438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872438
    reference: chr 2
allele count: 1
allele frequency: 8.398703240219711e-6
allele num: 119066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-51A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-51A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-191872439-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872439
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872439
    reference: chr 2
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-191872706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872706
    reference: chr 2
allele count: 5
allele frequency: 4.666791114429718e-4
allele num: 10714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-319G>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-191872707-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872707
    reference: chr 2
allele count: 7
allele frequency: 6.5359477124183e-4
allele num: 10710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-320C>A
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-191872719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872719
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 10706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-332T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-191872759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872759
    reference: chr 2
allele count: 1
allele frequency: 9.358038555118848e-5
allele num: 10686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-372A>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-191872782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191872782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191872782
    reference: chr 2
allele count: 1
allele frequency: 9.386146048432514e-5
allele num: 10654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.280-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.274-395T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-191873643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191873643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191873643
    reference: chr 2
allele count: 1
allele frequency: 9.356112348197077e-6
allele num: 106882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.279+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.273+46T>C
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

2-191873653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191873653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 191873653
    reference: chr 2
allele count: 1
allele frequency: 9.319143384340112e-6
allele num: 107306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000354394
  ensembl transcript: ENST00000361099
  gene symbol: STAT1
  hgvsc: ENST00000361099.3:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376137
  ensembl transcript: ENST00000392323
  gene symbol: STAT1
  hgvsc: ENST00000392323.2:c.279+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000411398
  ensembl transcript: ENST00000454414
  gene symbol: STAT1
  hgvsc: ENST00000454414.1:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000394512
  ensembl transcript: ENST00000452281
  gene symbol: STAT1
  hgvsc: ENST00000452281.1:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000402548
  ensembl transcript: ENST00000424722
  gene symbol: STAT1
  hgvsc: ENST00000424722.1:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000438703
  ensembl transcript: ENST00000540176
  gene symbol: STAT1
  hgvsc: ENST00000540176.1:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000386244
  ensembl transcript: ENST00000409465
  gene symbol: STAT1
  hgvsc: ENST00000409465.1:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115415
  ensembl protein: ENSP00000376136
  ensembl transcript: ENST00000392322
  gene symbol: STAT1
  hgvsc: ENST00000392322.3:c.273+36C>G
  variant of: http://identifiers.org/hgnc/11362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 726
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.209345614429218e-5
allele num: 62318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 1.731989e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61384029436447e-5
allele num: 61964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 6.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.692595e6

VQSLOD
type: SiteQuality
SIO_000300: -1.539e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9018
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623007757977083e-5
allele num: 61614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 2.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -7.016e-1

DP
type: SiteQuality
SIO_000300: 1.684308e6

QD
type: SiteQuality
SIO_000300: 6.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2218
bin: 6.75e1
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GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640150893882237e-5
allele num: 60970
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.805e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.408e0

DP
type: SiteQuality
SIO_000300: 1.646112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

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: 8612
num of homozygotes: 0

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

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

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

Latino
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allele count: 3
allele frequency: 2.603262755987504e-4
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.678881388621022e-4
allele num: 10370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.525e1

FS
type: SiteQuality
SIO_000300: 1.063e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 2.626195e6

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18179
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.607e1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.495e0

FS
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.002e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.634658e6

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 2.638893e6

QD
type: SiteQuality
SIO_000300: 1.39e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202212070209185e-4
allele num: 66544
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
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allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
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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: 16500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

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

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

African
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allele count: 4
allele frequency: 3.852080123266564e-4
allele num: 10384
num of homozygotes: 0

East Asian
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allele num: 8646
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 906
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 36
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variant carriers: 0

Other
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allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.596503375454388e-3
allele num: 11554
num of homozygotes: 0

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 469
allele frequency: 4.515694203735798e-2
allele num: 10386
num of homozygotes: 15

European (Non-Finnish)
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allele count: 5
allele frequency: 7.501200192030725e-5
allele num: 66656
num of homozygotes: 0

QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 7.1e-1

MQ
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SIO_000300: 5.987e1

MQRankSum
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SIO_000300: 1.6e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -4.342e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
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Latino
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allele frequency: 0.0e0
allele num: 11562
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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SIO_000300: 2.655452e6

QD
type: SiteQuality
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MQ
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SIO_000300: 5.956e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

VQSLOD
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SIO_000300: 7.51e-1

ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.947e1

DP
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QD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.92e-1

DP
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SIO_000300: 2.656833e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
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
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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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East Asian
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European (Finnish)
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allele num: 6610
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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QD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Latino
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African
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InbreedingCoeff
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QD
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FS
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DP
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.25e0

GenotypeQuality
all individuals: 3086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18062
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 11562
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e0

DP
type: SiteQuality
SIO_000300: 2.655973e6

FS
type: SiteQuality
SIO_000300: 5.66e0

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18057
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 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: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
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: 8650
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.652693e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 3059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 110
allele frequency: 1.058302867038676e-2
allele num: 10394
num of homozygotes: 2

Latino
type: Population
allele count: 9
allele frequency: 7.789510126363164e-4
allele num: 11554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

DP
type: SiteQuality
SIO_000300: 2.651292e6

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 1.708e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

QD
type: SiteQuality
SIO_000300: 1.6e1

GenotypeQuality
all individuals: 18036
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7182
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variant carriers: 0

GenotypeQuality
all individuals: 19730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 2.648068e6

VQSLOD
type: SiteQuality
SIO_000300: -3.44e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.07e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 7094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 2.644032e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.758e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 7.87e-1

MQ
type: SiteQuality
SIO_000300: 5.823e1

QD
type: SiteQuality
SIO_000300: 2.053e1

GenotypeQuality
all individuals: 3025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.242938538004607e-4
allele num: 16498
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: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 2.638611e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

FS
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

GenotypeQuality
all individuals: 18000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18030
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.633534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.616e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 6441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 571
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 14644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18051
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 2257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.313890559230306e-4
allele num: 66520
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.605356e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6101
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552795031055901e-5
allele num: 64400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

DP
type: SiteQuality
SIO_000300: 1.842498e6

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.271e0

MQRankSum
type: SiteQuality
SIO_000300: -1.511e0

FS
type: SiteQuality
SIO_000300: 5.924e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.552409339294585e-5
allele num: 64416
num of homozygotes: 0

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

East Asian
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allele count: 0
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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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 4.882216526302942e-4
allele num: 16386
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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QD
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.6e-2

MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: -2.87e-1

InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.220554131575735e-4
allele num: 16386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8244
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.903217e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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SIO_000300: 1.463e1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.190759704691593e-4
allele num: 8398
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65652
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
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num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
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allele frequency: 2.428068471530897e-4
allele num: 16474
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66442
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Other
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African
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South Asian
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QD
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BaseQRankSum
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MQRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 373

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.454545454545455e-4
allele num: 16500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 371
allele frequency: 4.30594243268338e-2
allele num: 8616
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.18e-2

DP
type: SiteQuality
SIO_000300: 1.991666e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

FS
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.969792e6

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 3.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817961459217065e-4
allele num: 16502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.245e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 1.969816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
all individuals: 2907
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.965626e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.024e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 12550
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.489e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.963499e6

FS
type: SiteQuality
SIO_000300: 1.4485e1

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1563
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 12556
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053899427883168e-4
allele num: 66420
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 2.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.962841e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.739432944859976e-4
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819505094614265e-4
allele num: 16488
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 1.959798e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 27
allele frequency: 2.701080432172869e-3
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 71
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
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allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9884
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023431594860166e-5
allele num: 66150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

FS
type: SiteQuality
SIO_000300: 9.486000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -8.058999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.938734e6

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

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6676
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variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.146341463414635e-4
allele num: 9840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
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: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
type: SiteQuality
SIO_000300: 1.926958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 4091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.048780487804878e-4
allele num: 9840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.926958e6

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12554
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.025851456709069e-4
allele num: 9748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.915721e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 1.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 6301
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.652745647144771e-4
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.006e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 1.915721e6

QD
type: SiteQuality
SIO_000300: 1.522e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.608497169639053e-5
allele num: 65716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.91688e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12552
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.918176e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

QD
type: SiteQuality
SIO_000300: 1.45e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 702
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

DP
type: SiteQuality
SIO_000300: 1.925442e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.700616456714018e-4
allele num: 7462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: -6.684e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 1.71125e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.867e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.474576271186441e-3
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 8.042895442359249e-4
allele num: 7460
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 1.71367e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -3.718e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

GenotypeQuality
all individuals: 1990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 785
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.71097e5

VQSLOD
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 1.69834e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 2.755e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.344086021505376e-4
allele num: 7440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.635e1

DP
type: SiteQuality
SIO_000300: 1.66821e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.32e-1

GenotypeQuality
all individuals: 488
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6579
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9599
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.736050831568348e-5
allele num: 57602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.193e0

FS
type: SiteQuality
SIO_000300: 2.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.365584e6

GenotypeQuality
all individuals: 3163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0